SNP Links for Protein (Select 768037325) - SNP

Select item 14875431911.

rs1487543191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106206361 (GRCh38)
X:105450354 (GRCh37)
Canonical SPDI:: NC_000023.11:106206360:C:T
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106206361C>T, NC_000023.10:g.105450354C>T, NG_016639.2:g.43057C>T, NM_152423.4:c.929C>T, NM_152423.5:c.929C>T, NM_001171020.2:c.929C>T, NM_001171020.1:c.929C>T, XM_017029269.2:c.929C>T, XM_017029269.1:c.929C>T, XM_011530856.2:c.929C>T, XM_011530856.1:c.929C>T, XM_024452334.2:c.929C>T, XM_024452334.1:c.929C>T, XM_011530857.2:c.929C>T, XM_011530857.1:c.929C>T, XM_047441823.1:c.929C>T, XM_047441822.1:c.929C>T, XM_047441824.1:c.929C>T, XM_047441825.1:c.929C>T, NP_689636.3:p.Pro310Leu, NP_001164491.1:p.Pro310Leu, XP_016884758.1:p.Pro310Leu, XP_011529158.1:p.Pro310Leu, XP_024308102.1:p.Pro310Leu, XP_011529159.1:p.Pro310Leu, XP_047297779.1:p.Pro310Leu, XP_047297778.1:p.Pro310Leu, XP_047297780.1:p.Pro310Leu, XP_047297781.1:p.Pro310Leu

Select item 14875037262.

rs1487503726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106206958 (GRCh38)
X:105450951 (GRCh37)
Canonical SPDI:: NC_000023.11:106206957:C:T
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106206958C>T, NC_000023.10:g.105450951C>T, NG_016639.2:g.43654C>T, NM_152423.4:c.1526C>T, NM_152423.5:c.1526C>T, NM_001171020.2:c.1526C>T, NM_001171020.1:c.1526C>T, XM_017029269.2:c.1526C>T, XM_017029269.1:c.1526C>T, XM_011530856.2:c.1526C>T, XM_011530856.1:c.1526C>T, XM_024452334.2:c.1526C>T, XM_024452334.1:c.1526C>T, XM_011530857.2:c.1526C>T, XM_011530857.1:c.1526C>T, XM_047441823.1:c.1526C>T, XM_047441822.1:c.1526C>T, XM_047441824.1:c.1526C>T, XM_047441825.1:c.1526C>T, NP_689636.3:p.Thr509Ile, NP_001164491.1:p.Thr509Ile, XP_016884758.1:p.Thr509Ile, XP_011529158.1:p.Thr509Ile, XP_024308102.1:p.Thr509Ile, XP_011529159.1:p.Thr509Ile, XP_047297779.1:p.Thr509Ile, XP_047297778.1:p.Thr509Ile, XP_047297780.1:p.Thr509Ile, XP_047297781.1:p.Thr509Ile

Select item 14874694783.

rs1487469478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:106207082 (GRCh38)
X:105451075 (GRCh37)
Canonical SPDI:: NC_000023.11:106207081:C:G
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.106207082C>G, NC_000023.10:g.105451075C>G, NG_016639.2:g.43778C>G, NM_152423.4:c.1650C>G, NM_152423.5:c.1650C>G, NM_001171020.2:c.1650C>G, NM_001171020.1:c.1650C>G, XM_017029269.2:c.1650C>G, XM_017029269.1:c.1650C>G, XM_011530856.2:c.1650C>G, XM_011530856.1:c.1650C>G, XM_024452334.2:c.1650C>G, XM_024452334.1:c.1650C>G, XM_011530857.2:c.1650C>G, XM_011530857.1:c.1650C>G, XM_047441823.1:c.1650C>G, XM_047441822.1:c.1650C>G, XM_047441824.1:c.1650C>G, XM_047441825.1:c.1650C>G, NP_689636.3:p.Asp550Glu, NP_001164491.1:p.Asp550Glu, XP_016884758.1:p.Asp550Glu, XP_011529158.1:p.Asp550Glu, XP_024308102.1:p.Asp550Glu, XP_011529159.1:p.Asp550Glu, XP_047297779.1:p.Asp550Glu, XP_047297778.1:p.Asp550Glu, XP_047297780.1:p.Asp550Glu, XP_047297781.1:p.Asp550Glu

Select item 14821984344.

rs1482198434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:106206130 (GRCh38)
X:105450123 (GRCh37)
Canonical SPDI:: NC_000023.11:106206129:A:G,NC_000023.11:106206129:A:T
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.106206130A>G, NC_000023.11:g.106206130A>T, NC_000023.10:g.105450123A>G, NC_000023.10:g.105450123A>T, NG_016639.2:g.42826A>G, NG_016639.2:g.42826A>T, NM_152423.4:c.698A>G, NM_152423.4:c.698A>T, NM_152423.5:c.698A>G, NM_152423.5:c.698A>T, NM_001171020.2:c.698A>G, NM_001171020.2:c.698A>T, NM_001171020.1:c.698A>G, NM_001171020.1:c.698A>T, XM_017029269.2:c.698A>G, XM_017029269.2:c.698A>T, XM_017029269.1:c.698A>G, XM_017029269.1:c.698A>T, XM_011530856.2:c.698A>G, XM_011530856.2:c.698A>T, XM_011530856.1:c.698A>G, XM_011530856.1:c.698A>T, XM_024452334.2:c.698A>G, XM_024452334.2:c.698A>T, XM_024452334.1:c.698A>G, XM_024452334.1:c.698A>T, XM_011530857.2:c.698A>G, XM_011530857.2:c.698A>T, XM_011530857.1:c.698A>G, XM_011530857.1:c.698A>T, XM_047441823.1:c.698A>G, XM_047441823.1:c.698A>T, XM_047441822.1:c.698A>G, XM_047441822.1:c.698A>T, XM_047441824.1:c.698A>G, XM_047441824.1:c.698A>T, XM_047441825.1:c.698A>G, XM_047441825.1:c.698A>T, NP_689636.3:p.Asp233Gly, NP_689636.3:p.Asp233Val, NP_001164491.1:p.Asp233Gly, NP_001164491.1:p.Asp233Val, XP_016884758.1:p.Asp233Gly, XP_016884758.1:p.Asp233Val, XP_011529158.1:p.Asp233Gly, XP_011529158.1:p.Asp233Val, XP_024308102.1:p.Asp233Gly, XP_024308102.1:p.Asp233Val, XP_011529159.1:p.Asp233Gly, XP_011529159.1:p.Asp233Val, XP_047297779.1:p.Asp233Gly, XP_047297779.1:p.Asp233Val, XP_047297778.1:p.Asp233Gly, XP_047297778.1:p.Asp233Val, XP_047297780.1:p.Asp233Gly, XP_047297780.1:p.Asp233Val, XP_047297781.1:p.Asp233Gly, XP_047297781.1:p.Asp233Val

Select item 14792803665.

rs1479280366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:106206346 (GRCh38)
X:105450339 (GRCh37)
Canonical SPDI:: NC_000023.11:106206345:G:C
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106206346G>C, NC_000023.10:g.105450339G>C, NG_016639.2:g.43042G>C, NM_152423.4:c.914G>C, NM_152423.5:c.914G>C, NM_001171020.2:c.914G>C, NM_001171020.1:c.914G>C, XM_017029269.2:c.914G>C, XM_017029269.1:c.914G>C, XM_011530856.2:c.914G>C, XM_011530856.1:c.914G>C, XM_024452334.2:c.914G>C, XM_024452334.1:c.914G>C, XM_011530857.2:c.914G>C, XM_011530857.1:c.914G>C, XM_047441823.1:c.914G>C, XM_047441822.1:c.914G>C, XM_047441824.1:c.914G>C, XM_047441825.1:c.914G>C, NP_689636.3:p.Gly305Ala, NP_001164491.1:p.Gly305Ala, XP_016884758.1:p.Gly305Ala, XP_011529158.1:p.Gly305Ala, XP_024308102.1:p.Gly305Ala, XP_011529159.1:p.Gly305Ala, XP_047297779.1:p.Gly305Ala, XP_047297778.1:p.Gly305Ala, XP_047297780.1:p.Gly305Ala, XP_047297781.1:p.Gly305Ala

Select item 14736805086.

rs1473680508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106206063 (GRCh38)
X:105450056 (GRCh37)
Canonical SPDI:: NC_000023.11:106206062:A:G
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.106206063A>G, NC_000023.10:g.105450056A>G, NG_016639.2:g.42759A>G, NM_152423.4:c.631A>G, NM_152423.5:c.631A>G, NM_001171020.2:c.631A>G, NM_001171020.1:c.631A>G, XM_017029269.2:c.631A>G, XM_017029269.1:c.631A>G, XM_011530856.2:c.631A>G, XM_011530856.1:c.631A>G, XM_024452334.2:c.631A>G, XM_024452334.1:c.631A>G, XM_011530857.2:c.631A>G, XM_011530857.1:c.631A>G, XM_047441823.1:c.631A>G, XM_047441822.1:c.631A>G, XM_047441824.1:c.631A>G, XM_047441825.1:c.631A>G, NP_689636.3:p.Lys211Glu, NP_001164491.1:p.Lys211Glu, XP_016884758.1:p.Lys211Glu, XP_011529158.1:p.Lys211Glu, XP_024308102.1:p.Lys211Glu, XP_011529159.1:p.Lys211Glu, XP_047297779.1:p.Lys211Glu, XP_047297778.1:p.Lys211Glu, XP_047297780.1:p.Lys211Glu, XP_047297781.1:p.Lys211Glu

Select item 14717772217.

rs1471777221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:106207179 (GRCh38)
X:105451172 (GRCh37)
Canonical SPDI:: NC_000023.11:106207178:C:A
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106207179C>A, NC_000023.10:g.105451172C>A, NG_016639.2:g.43875C>A, NM_152423.4:c.1747C>A, NM_152423.5:c.1747C>A, NM_001171020.2:c.1747C>A, NM_001171020.1:c.1747C>A, XM_017029269.2:c.1747C>A, XM_017029269.1:c.1747C>A, XM_011530856.2:c.1747C>A, XM_011530856.1:c.1747C>A, XM_024452334.2:c.1747C>A, XM_024452334.1:c.1747C>A, XM_011530857.2:c.1747C>A, XM_011530857.1:c.1747C>A, XM_047441823.1:c.1747C>A, XM_047441822.1:c.1747C>A, XM_047441824.1:c.1747C>A, XM_047441825.1:c.1747C>A, NP_689636.3:p.Leu583Met, NP_001164491.1:p.Leu583Met, XP_016884758.1:p.Leu583Met, XP_011529158.1:p.Leu583Met, XP_024308102.1:p.Leu583Met, XP_011529159.1:p.Leu583Met, XP_047297779.1:p.Leu583Met, XP_047297778.1:p.Leu583Met, XP_047297780.1:p.Leu583Met, XP_047297781.1:p.Leu583Met

Select item 14652646358.

rs1465264635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106206066 (GRCh38)
X:105450059 (GRCh37)
Canonical SPDI:: NC_000023.11:106206065:A:G
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106206066A>G, NC_000023.10:g.105450059A>G, NG_016639.2:g.42762A>G, NM_152423.4:c.634A>G, NM_152423.5:c.634A>G, NM_001171020.2:c.634A>G, NM_001171020.1:c.634A>G, XM_017029269.2:c.634A>G, XM_017029269.1:c.634A>G, XM_011530856.2:c.634A>G, XM_011530856.1:c.634A>G, XM_024452334.2:c.634A>G, XM_024452334.1:c.634A>G, XM_011530857.2:c.634A>G, XM_011530857.1:c.634A>G, XM_047441823.1:c.634A>G, XM_047441822.1:c.634A>G, XM_047441824.1:c.634A>G, XM_047441825.1:c.634A>G, NP_689636.3:p.Ile212Val, NP_001164491.1:p.Ile212Val, XP_016884758.1:p.Ile212Val, XP_011529158.1:p.Ile212Val, XP_024308102.1:p.Ile212Val, XP_011529159.1:p.Ile212Val, XP_047297779.1:p.Ile212Val, XP_047297778.1:p.Ile212Val, XP_047297780.1:p.Ile212Val, XP_047297781.1:p.Ile212Val

Select item 14610796279.

rs1461079627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:106205853 (GRCh38)
X:105449846 (GRCh37)
Canonical SPDI:: NC_000023.11:106205852:T:A
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106205853T>A, NC_000023.10:g.105449846T>A, NG_016639.2:g.42549T>A, NM_152423.4:c.421T>A, NM_152423.5:c.421T>A, NM_001171020.2:c.421T>A, NM_001171020.1:c.421T>A, XM_017029269.2:c.421T>A, XM_017029269.1:c.421T>A, XM_011530856.2:c.421T>A, XM_011530856.1:c.421T>A, XM_024452334.2:c.421T>A, XM_024452334.1:c.421T>A, XM_011530857.2:c.421T>A, XM_011530857.1:c.421T>A, XM_047441823.1:c.421T>A, XM_047441822.1:c.421T>A, XM_047441824.1:c.421T>A, XM_047441825.1:c.421T>A, NP_689636.3:p.Leu141Ile, NP_001164491.1:p.Leu141Ile, XP_016884758.1:p.Leu141Ile, XP_011529158.1:p.Leu141Ile, XP_024308102.1:p.Leu141Ile, XP_011529159.1:p.Leu141Ile, XP_047297779.1:p.Leu141Ile, XP_047297778.1:p.Leu141Ile, XP_047297780.1:p.Leu141Ile, XP_047297781.1:p.Leu141Ile

Select item 146032246610.

rs1460322466 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:106205962 (GRCh38)
X:105449955 (GRCh37)
Canonical SPDI:: NC_000023.11:106205961:C:
Gene:: PWWP3B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.0001/1 (GoESP)
HGVS:: NC_000023.11:g.106205962del, NC_000023.10:g.105449955del, NG_016639.2:g.42658del, NM_152423.4:c.530del, NM_152423.5:c.530del, NM_001171020.2:c.530del, NM_001171020.1:c.530del, XM_017029269.2:c.530del, XM_017029269.1:c.530del, XM_011530856.2:c.530del, XM_011530856.1:c.530del, XM_024452334.2:c.530del, XM_024452334.1:c.530del, XM_011530857.2:c.530del, XM_011530857.1:c.530del, XM_047441823.1:c.530del, XM_047441822.1:c.530del, XM_047441824.1:c.530del, XM_047441825.1:c.530del, NP_689636.3:p.Thr177fs, NP_001164491.1:p.Thr177fs, XP_016884758.1:p.Thr177fs, XP_011529158.1:p.Thr177fs, XP_024308102.1:p.Thr177fs, XP_011529159.1:p.Thr177fs, XP_047297779.1:p.Thr177fs, XP_047297778.1:p.Thr177fs, XP_047297780.1:p.Thr177fs, XP_047297781.1:p.Thr177fs

Select item 145860095211.

rs1458600952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106206079 (GRCh38)
X:105450072 (GRCh37)
Canonical SPDI:: NC_000023.11:106206078:C:T
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.106206079C>T, NC_000023.10:g.105450072C>T, NG_016639.2:g.42775C>T, NM_152423.4:c.647C>T, NM_152423.5:c.647C>T, NM_001171020.2:c.647C>T, NM_001171020.1:c.647C>T, XM_017029269.2:c.647C>T, XM_017029269.1:c.647C>T, XM_011530856.2:c.647C>T, XM_011530856.1:c.647C>T, XM_024452334.2:c.647C>T, XM_024452334.1:c.647C>T, XM_011530857.2:c.647C>T, XM_011530857.1:c.647C>T, XM_047441823.1:c.647C>T, XM_047441822.1:c.647C>T, XM_047441824.1:c.647C>T, XM_047441825.1:c.647C>T, NP_689636.3:p.Ala216Val, NP_001164491.1:p.Ala216Val, XP_016884758.1:p.Ala216Val, XP_011529158.1:p.Ala216Val, XP_024308102.1:p.Ala216Val, XP_011529159.1:p.Ala216Val, XP_047297779.1:p.Ala216Val, XP_047297778.1:p.Ala216Val, XP_047297780.1:p.Ala216Val, XP_047297781.1:p.Ala216Val

Select item 145824804412.

rs1458248044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106206520 (GRCh38)
X:105450513 (GRCh37)
Canonical SPDI:: NC_000023.11:106206519:G:A
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.106206520G>A, NC_000023.10:g.105450513G>A, NG_016639.2:g.43216G>A, NM_152423.4:c.1088G>A, NM_152423.5:c.1088G>A, NM_001171020.2:c.1088G>A, NM_001171020.1:c.1088G>A, XM_017029269.2:c.1088G>A, XM_017029269.1:c.1088G>A, XM_011530856.2:c.1088G>A, XM_011530856.1:c.1088G>A, XM_024452334.2:c.1088G>A, XM_024452334.1:c.1088G>A, XM_011530857.2:c.1088G>A, XM_011530857.1:c.1088G>A, XM_047441823.1:c.1088G>A, XM_047441822.1:c.1088G>A, XM_047441824.1:c.1088G>A, XM_047441825.1:c.1088G>A, NP_689636.3:p.Arg363His, NP_001164491.1:p.Arg363His, XP_016884758.1:p.Arg363His, XP_011529158.1:p.Arg363His, XP_024308102.1:p.Arg363His, XP_011529159.1:p.Arg363His, XP_047297779.1:p.Arg363His, XP_047297778.1:p.Arg363His, XP_047297780.1:p.Arg363His, XP_047297781.1:p.Arg363His

Select item 145766717813.

rs1457667178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106207002 (GRCh38)
X:105450995 (GRCh37)
Canonical SPDI:: NC_000023.11:106207001:G:A
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106207002G>A, NC_000023.10:g.105450995G>A, NG_016639.2:g.43698G>A, NM_152423.4:c.1570G>A, NM_152423.5:c.1570G>A, NM_001171020.2:c.1570G>A, NM_001171020.1:c.1570G>A, XM_017029269.2:c.1570G>A, XM_017029269.1:c.1570G>A, XM_011530856.2:c.1570G>A, XM_011530856.1:c.1570G>A, XM_024452334.2:c.1570G>A, XM_024452334.1:c.1570G>A, XM_011530857.2:c.1570G>A, XM_011530857.1:c.1570G>A, XM_047441823.1:c.1570G>A, XM_047441822.1:c.1570G>A, XM_047441824.1:c.1570G>A, XM_047441825.1:c.1570G>A, NP_689636.3:p.Glu524Lys, NP_001164491.1:p.Glu524Lys, XP_016884758.1:p.Glu524Lys, XP_011529158.1:p.Glu524Lys, XP_024308102.1:p.Glu524Lys, XP_011529159.1:p.Glu524Lys, XP_047297779.1:p.Glu524Lys, XP_047297778.1:p.Glu524Lys, XP_047297780.1:p.Glu524Lys, XP_047297781.1:p.Glu524Lys

Select item 145706137814.

rs1457061378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:106206771 (GRCh38)
X:105450764 (GRCh37)
Canonical SPDI:: NC_000023.11:106206770:G:A,NC_000023.11:106206770:G:C
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000023.11:g.106206771G>A, NC_000023.11:g.106206771G>C, NC_000023.10:g.105450764G>A, NC_000023.10:g.105450764G>C, NG_016639.2:g.43467G>A, NG_016639.2:g.43467G>C, NM_152423.4:c.1339G>A, NM_152423.4:c.1339G>C, NM_152423.5:c.1339G>A, NM_152423.5:c.1339G>C, NM_001171020.2:c.1339G>A, NM_001171020.2:c.1339G>C, NM_001171020.1:c.1339G>A, NM_001171020.1:c.1339G>C, XM_017029269.2:c.1339G>A, XM_017029269.2:c.1339G>C, XM_017029269.1:c.1339G>A, XM_017029269.1:c.1339G>C, XM_011530856.2:c.1339G>A, XM_011530856.2:c.1339G>C, XM_011530856.1:c.1339G>A, XM_011530856.1:c.1339G>C, XM_024452334.2:c.1339G>A, XM_024452334.2:c.1339G>C, XM_024452334.1:c.1339G>A, XM_024452334.1:c.1339G>C, XM_011530857.2:c.1339G>A, XM_011530857.2:c.1339G>C, XM_011530857.1:c.1339G>A, XM_011530857.1:c.1339G>C, XM_047441823.1:c.1339G>A, XM_047441823.1:c.1339G>C, XM_047441822.1:c.1339G>A, XM_047441822.1:c.1339G>C, XM_047441824.1:c.1339G>A, XM_047441824.1:c.1339G>C, XM_047441825.1:c.1339G>A, XM_047441825.1:c.1339G>C, NP_689636.3:p.Asp447Asn, NP_689636.3:p.Asp447His, NP_001164491.1:p.Asp447Asn, NP_001164491.1:p.Asp447His, XP_016884758.1:p.Asp447Asn, XP_016884758.1:p.Asp447His, XP_011529158.1:p.Asp447Asn, XP_011529158.1:p.Asp447His, XP_024308102.1:p.Asp447Asn, XP_024308102.1:p.Asp447His, XP_011529159.1:p.Asp447Asn, XP_011529159.1:p.Asp447His, XP_047297779.1:p.Asp447Asn, XP_047297779.1:p.Asp447His, XP_047297778.1:p.Asp447Asn, XP_047297778.1:p.Asp447His, XP_047297780.1:p.Asp447Asn, XP_047297780.1:p.Asp447His, XP_047297781.1:p.Asp447Asn, XP_047297781.1:p.Asp447His

Select item 145652476315.

rs1456524763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:106205644 (GRCh38)
X:105449637 (GRCh37)
Canonical SPDI:: NC_000023.11:106205643:G:C
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000223/2 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106205644G>C, NC_000023.10:g.105449637G>C, NG_016639.2:g.42340G>C, NM_152423.4:c.212G>C, NM_152423.5:c.212G>C, NM_001171020.2:c.212G>C, NM_001171020.1:c.212G>C, XM_017029269.2:c.212G>C, XM_017029269.1:c.212G>C, XM_011530856.2:c.212G>C, XM_011530856.1:c.212G>C, XM_024452334.2:c.212G>C, XM_024452334.1:c.212G>C, XM_011530857.2:c.212G>C, XM_011530857.1:c.212G>C, XM_047441823.1:c.212G>C, XM_047441822.1:c.212G>C, XM_047441824.1:c.212G>C, XM_047441825.1:c.212G>C, NP_689636.3:p.Gly71Ala, NP_001164491.1:p.Gly71Ala, XP_016884758.1:p.Gly71Ala, XP_011529158.1:p.Gly71Ala, XP_024308102.1:p.Gly71Ala, XP_011529159.1:p.Gly71Ala, XP_047297779.1:p.Gly71Ala, XP_047297778.1:p.Gly71Ala, XP_047297780.1:p.Gly71Ala, XP_047297781.1:p.Gly71Ala

Select item 145610403216.

rs1456104032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106207104 (GRCh38)
X:105451097 (GRCh37)
Canonical SPDI:: NC_000023.11:106207103:G:A
Gene:: PWWP3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106207104G>A, NC_000023.10:g.105451097G>A, NG_016639.2:g.43800G>A, NM_152423.4:c.1672G>A, NM_152423.5:c.1672G>A, NM_001171020.2:c.1672G>A, NM_001171020.1:c.1672G>A, XM_017029269.2:c.1672G>A, XM_017029269.1:c.1672G>A, XM_011530856.2:c.1672G>A, XM_011530856.1:c.1672G>A, XM_024452334.2:c.1672G>A, XM_024452334.1:c.1672G>A, XM_011530857.2:c.1672G>A, XM_011530857.1:c.1672G>A, XM_047441823.1:c.1672G>A, XM_047441822.1:c.1672G>A, XM_047441824.1:c.1672G>A, XM_047441825.1:c.1672G>A, NP_689636.3:p.Asp558Asn, NP_001164491.1:p.Asp558Asn, XP_016884758.1:p.Asp558Asn, XP_011529158.1:p.Asp558Asn, XP_024308102.1:p.Asp558Asn, XP_011529159.1:p.Asp558Asn, XP_047297779.1:p.Asp558Asn, XP_047297778.1:p.Asp558Asn, XP_047297780.1:p.Asp558Asn, XP_047297781.1:p.Asp558Asn

Select item 145521598317.

rs1455215983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106206971 (GRCh38)
X:105450964 (GRCh37)
Canonical SPDI:: NC_000023.11:106206970:A:G
Gene:: PWWP3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106206971A>G, NC_000023.10:g.105450964A>G, NG_016639.2:g.43667A>G, NM_152423.4:c.1539A>G, NM_152423.5:c.1539A>G, NM_001171020.2:c.1539A>G, NM_001171020.1:c.1539A>G, XM_017029269.2:c.1539A>G, XM_017029269.1:c.1539A>G, XM_011530856.2:c.1539A>G, XM_011530856.1:c.1539A>G, XM_024452334.2:c.1539A>G, XM_024452334.1:c.1539A>G, XM_011530857.2:c.1539A>G, XM_011530857.1:c.1539A>G, XM_047441823.1:c.1539A>G, XM_047441822.1:c.1539A>G, XM_047441824.1:c.1539A>G, XM_047441825.1:c.1539A>G

Select item 145276407818.

rs1452764078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106206363 (GRCh38)
X:105450356 (GRCh37)
Canonical SPDI:: NC_000023.11:106206362:G:A
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106206363G>A, NC_000023.10:g.105450356G>A, NG_016639.2:g.43059G>A, NM_152423.4:c.931G>A, NM_152423.5:c.931G>A, NM_001171020.2:c.931G>A, NM_001171020.1:c.931G>A, XM_017029269.2:c.931G>A, XM_017029269.1:c.931G>A, XM_011530856.2:c.931G>A, XM_011530856.1:c.931G>A, XM_024452334.2:c.931G>A, XM_024452334.1:c.931G>A, XM_011530857.2:c.931G>A, XM_011530857.1:c.931G>A, XM_047441823.1:c.931G>A, XM_047441822.1:c.931G>A, XM_047441824.1:c.931G>A, XM_047441825.1:c.931G>A, NP_689636.3:p.Gly311Arg, NP_001164491.1:p.Gly311Arg, XP_016884758.1:p.Gly311Arg, XP_011529158.1:p.Gly311Arg, XP_024308102.1:p.Gly311Arg, XP_011529159.1:p.Gly311Arg, XP_047297779.1:p.Gly311Arg, XP_047297778.1:p.Gly311Arg, XP_047297780.1:p.Gly311Arg, XP_047297781.1:p.Gly311Arg

Select item 145121374419.

rs1451213744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106205943 (GRCh38)
X:105449936 (GRCh37)
Canonical SPDI:: NC_000023.11:106205942:G:A
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.106205943G>A, NC_000023.10:g.105449936G>A, NG_016639.2:g.42639G>A, NM_152423.4:c.511G>A, NM_152423.5:c.511G>A, NM_001171020.2:c.511G>A, NM_001171020.1:c.511G>A, XM_017029269.2:c.511G>A, XM_017029269.1:c.511G>A, XM_011530856.2:c.511G>A, XM_011530856.1:c.511G>A, XM_024452334.2:c.511G>A, XM_024452334.1:c.511G>A, XM_011530857.2:c.511G>A, XM_011530857.1:c.511G>A, XM_047441823.1:c.511G>A, XM_047441822.1:c.511G>A, XM_047441824.1:c.511G>A, XM_047441825.1:c.511G>A, NP_689636.3:p.Ala171Thr, NP_001164491.1:p.Ala171Thr, XP_016884758.1:p.Ala171Thr, XP_011529158.1:p.Ala171Thr, XP_024308102.1:p.Ala171Thr, XP_011529159.1:p.Ala171Thr, XP_047297779.1:p.Ala171Thr, XP_047297778.1:p.Ala171Thr, XP_047297780.1:p.Ala171Thr, XP_047297781.1:p.Ala171Thr

Select item 145092858020.

rs1450928580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:106206052 (GRCh38)
X:105450045 (GRCh37)
Canonical SPDI:: NC_000023.11:106206051:A:C
Gene:: PWWP3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106206052A>C, NC_000023.10:g.105450045A>C, NG_016639.2:g.42748A>C, NM_152423.4:c.620A>C, NM_152423.5:c.620A>C, NM_001171020.2:c.620A>C, NM_001171020.1:c.620A>C, XM_017029269.2:c.620A>C, XM_017029269.1:c.620A>C, XM_011530856.2:c.620A>C, XM_011530856.1:c.620A>C, XM_024452334.2:c.620A>C, XM_024452334.1:c.620A>C, XM_011530857.2:c.620A>C, XM_011530857.1:c.620A>C, XM_047441823.1:c.620A>C, XM_047441822.1:c.620A>C, XM_047441824.1:c.620A>C, XM_047441825.1:c.620A>C, NP_689636.3:p.Glu207Ala, NP_001164491.1:p.Glu207Ala, XP_016884758.1:p.Glu207Ala, XP_011529158.1:p.Glu207Ala, XP_024308102.1:p.Glu207Ala, XP_011529159.1:p.Glu207Ala, XP_047297779.1:p.Glu207Ala, XP_047297778.1:p.Glu207Ala, XP_047297780.1:p.Glu207Ala, XP_047297781.1:p.Glu207Ala

dbSNP

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 501

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