SNP Links for Protein (Select 24308384) - SNP

Select item 14880995721.

rs1488099572 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>- [Show Flanks]
Chromosome:: X:152990829 (GRCh38)
X:152159373 (GRCh37)
Canonical SPDI:: NC_000023.11:152990826:TCTCTC:TC
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.152990827TC[1], NW_003871103.3:g.424810TC[1], NG_021341.2:g.8296GA[1], NM_052926.3:c.769_772del, NM_052926.2:c.769_772del, NM_001184924.2:c.769_772del, NM_001184924.1:c.769_772del, NM_001103150.1:c.769_772del, NM_001103151.1:c.769_772del, NW_025791818.1:g.606017TC[1], NC_000023.10:g.152159371TC[1], XM_017029252.2:c.769_772del, XM_017029252.1:c.769_772del, XM_017029253.2:c.769_772del, XM_017029253.1:c.769_772del, NP_443158.1:p.Glu257fs, NP_001171853.1:p.Glu257fs, NP_001096620.1:p.Glu257fs, NP_001096621.1:p.Glu257fs, XP_016884741.1:p.Glu257fs, XP_016884742.1:p.Glu257fs

Select item 14866182472.

rs1486618247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152990623 (GRCh38)
X:152159167 (GRCh37)
Canonical SPDI:: NC_000023.11:152990622:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152990623G>A, NW_003871103.3:g.424606G>A, NG_021341.2:g.8505C>T, NM_052926.3:c.976C>T, NM_052926.2:c.976C>T, NM_001184924.2:c.976C>T, NM_001184924.1:c.976C>T, NM_001103150.1:c.976C>T, NM_001103151.1:c.976C>T, NW_025791818.1:g.605813G>A, NC_000023.10:g.152159167G>A, XM_017029252.2:c.976C>T, XM_017029252.1:c.976C>T, XM_017029253.2:c.976C>T, XM_017029253.1:c.976C>T, NP_443158.1:p.Arg326Ter, NP_001171853.1:p.Arg326Ter, NP_001096620.1:p.Arg326Ter, NP_001096621.1:p.Arg326Ter, XP_016884741.1:p.Arg326Ter, XP_016884742.1:p.Arg326Ter

Select item 14808560753.

rs1480856075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:152990308 (GRCh38)
X:152158852 (GRCh37)
Canonical SPDI:: NC_000023.11:152990307:A:C
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.152990308A>C, NW_003871103.3:g.424291A>C, NG_021341.2:g.8820T>G, NM_052926.3:c.1291T>G, NM_052926.2:c.1291T>G, NM_001184924.2:c.1291T>G, NM_001184924.1:c.1291T>G, NM_001103150.1:c.1291T>G, NM_001103151.1:c.1291T>G, NW_025791818.1:g.605498A>C, NC_000023.10:g.152158852A>C, XM_017029252.2:c.1291T>G, XM_017029252.1:c.1291T>G, XM_017029253.2:c.1291T>G, XM_017029253.1:c.1291T>G, NP_443158.1:p.Leu431Val, NP_001171853.1:p.Leu431Val, NP_001096620.1:p.Leu431Val, NP_001096621.1:p.Leu431Val, XP_016884741.1:p.Leu431Val, XP_016884742.1:p.Leu431Val

Select item 14766136944.

rs1476613694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:152990946 (GRCh38)
X:152159490 (GRCh37)
Canonical SPDI:: NC_000023.11:152990945:T:C
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.152990946T>C, NW_003871103.3:g.424929T>C, NG_021341.2:g.8182A>G, NM_052926.3:c.653A>G, NM_052926.2:c.653A>G, NM_001184924.2:c.653A>G, NM_001184924.1:c.653A>G, NM_001103150.1:c.653A>G, NM_001103151.1:c.653A>G, NW_025791818.1:g.606136T>C, NC_000023.10:g.152159490T>C, XM_017029252.2:c.653A>G, XM_017029252.1:c.653A>G, XM_017029253.2:c.653A>G, XM_017029253.1:c.653A>G, NP_443158.1:p.Asn218Ser, NP_001171853.1:p.Asn218Ser, NP_001096620.1:p.Asn218Ser, NP_001096621.1:p.Asn218Ser, XP_016884741.1:p.Asn218Ser, XP_016884742.1:p.Asn218Ser

Select item 14714699295.

rs1471469929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152990317 (GRCh38)
X:152158861 (GRCh37)
Canonical SPDI:: NC_000023.11:152990316:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152990317C>T, NW_003871103.3:g.424300C>T, NG_021341.2:g.8811G>A, NM_052926.3:c.1282G>A, NM_052926.2:c.1282G>A, NM_001184924.2:c.1282G>A, NM_001184924.1:c.1282G>A, NM_001103150.1:c.1282G>A, NM_001103151.1:c.1282G>A, NW_025791818.1:g.605507C>T, NC_000023.10:g.152158861C>T, XM_017029252.2:c.1282G>A, XM_017029252.1:c.1282G>A, XM_017029253.2:c.1282G>A, XM_017029253.1:c.1282G>A, NP_443158.1:p.Gly428Arg, NP_001171853.1:p.Gly428Arg, NP_001096620.1:p.Gly428Arg, NP_001096621.1:p.Gly428Arg, XP_016884741.1:p.Gly428Arg, XP_016884742.1:p.Gly428Arg

Select item 14637791986.

rs1463779198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:152991117 (GRCh38)
X:152159661 (GRCh37)
Canonical SPDI:: NC_000023.11:152991116:A:C,NC_000023.11:152991116:A:G
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152991117A>C, NC_000023.11:g.152991117A>G, NW_003871103.3:g.425100A>C, NW_003871103.3:g.425100A>G, NG_021341.2:g.8011T>G, NG_021341.2:g.8011T>C, NM_052926.3:c.482T>G, NM_052926.3:c.482T>C, NM_052926.2:c.482T>G, NM_052926.2:c.482T>C, NM_001184924.2:c.482T>G, NM_001184924.2:c.482T>C, NM_001184924.1:c.482T>G, NM_001184924.1:c.482T>C, NM_001103150.1:c.482T>G, NM_001103150.1:c.482T>C, NM_001103151.1:c.482T>G, NM_001103151.1:c.482T>C, NW_025791818.1:g.606307A>C, NW_025791818.1:g.606307A>G, NC_000023.10:g.152159661A>C, NC_000023.10:g.152159661A>G, XM_017029252.2:c.482T>G, XM_017029252.2:c.482T>C, XM_017029252.1:c.482T>G, XM_017029252.1:c.482T>C, XM_017029253.2:c.482T>G, XM_017029253.2:c.482T>C, XM_017029253.1:c.482T>G, XM_017029253.1:c.482T>C, NP_443158.1:p.Val161Gly, NP_443158.1:p.Val161Ala, NP_001171853.1:p.Val161Gly, NP_001171853.1:p.Val161Ala, NP_001096620.1:p.Val161Gly, NP_001096620.1:p.Val161Ala, NP_001096621.1:p.Val161Gly, NP_001096621.1:p.Val161Ala, XP_016884741.1:p.Val161Gly, XP_016884741.1:p.Val161Ala, XP_016884742.1:p.Val161Gly, XP_016884742.1:p.Val161Ala

Select item 14628672597.

rs1462867259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:152991187 (GRCh38)
X:152159731 (GRCh37)
Canonical SPDI:: NC_000023.11:152991186:C:G,NC_000023.11:152991186:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.152991187C>G, NC_000023.11:g.152991187C>T, NW_003871103.3:g.425170C>G, NW_003871103.3:g.425170C>T, NG_021341.2:g.7941G>C, NG_021341.2:g.7941G>A, NM_052926.3:c.412G>C, NM_052926.3:c.412G>A, NM_052926.2:c.412G>C, NM_052926.2:c.412G>A, NM_001184924.2:c.412G>C, NM_001184924.2:c.412G>A, NM_001184924.1:c.412G>C, NM_001184924.1:c.412G>A, NM_001103150.1:c.412G>C, NM_001103150.1:c.412G>A, NM_001103151.1:c.412G>C, NM_001103151.1:c.412G>A, NW_025791818.1:g.606377C>G, NW_025791818.1:g.606377C>T, NC_000023.10:g.152159731C>G, NC_000023.10:g.152159731C>T, XM_017029252.2:c.412G>C, XM_017029252.2:c.412G>A, XM_017029252.1:c.412G>C, XM_017029252.1:c.412G>A, XM_017029253.2:c.412G>C, XM_017029253.2:c.412G>A, XM_017029253.1:c.412G>C, XM_017029253.1:c.412G>A, NP_443158.1:p.Val138Leu, NP_443158.1:p.Val138Ile, NP_001171853.1:p.Val138Leu, NP_001171853.1:p.Val138Ile, NP_001096620.1:p.Val138Leu, NP_001096620.1:p.Val138Ile, NP_001096621.1:p.Val138Leu, NP_001096621.1:p.Val138Ile, XP_016884741.1:p.Val138Leu, XP_016884741.1:p.Val138Ile, XP_016884742.1:p.Val138Leu, XP_016884742.1:p.Val138Ile

Select item 14534537268.

rs1453453726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152990513 (GRCh38)
X:152159057 (GRCh37)
Canonical SPDI:: NC_000023.11:152990512:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152990513G>A, NW_003871103.3:g.424496G>A, NG_021341.2:g.8615C>T, NM_052926.3:c.1086C>T, NM_052926.2:c.1086C>T, NM_001184924.2:c.1086C>T, NM_001184924.1:c.1086C>T, NM_001103150.1:c.1086C>T, NM_001103151.1:c.1086C>T, NW_025791818.1:g.605703G>A, NC_000023.10:g.152159057G>A, XM_017029252.2:c.1086C>T, XM_017029252.1:c.1086C>T, XM_017029253.2:c.1086C>T, XM_017029253.1:c.1086C>T

Select item 14480930549.

rs1448093054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:152991109 (GRCh38)
X:152159653 (GRCh37)
Canonical SPDI:: NC_000023.11:152991108:C:G
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.152991109C>G, NW_003871103.3:g.425092C>G, NG_021341.2:g.8019G>C, NM_052926.3:c.490G>C, NM_052926.2:c.490G>C, NM_001184924.2:c.490G>C, NM_001184924.1:c.490G>C, NM_001103150.1:c.490G>C, NM_001103151.1:c.490G>C, NW_025791818.1:g.606299C>G, NC_000023.10:g.152159653C>G, XM_017029252.2:c.490G>C, XM_017029252.1:c.490G>C, XM_017029253.2:c.490G>C, XM_017029253.1:c.490G>C, NP_443158.1:p.Gly164Arg, NP_001171853.1:p.Gly164Arg, NP_001096620.1:p.Gly164Arg, NP_001096621.1:p.Gly164Arg, XP_016884741.1:p.Gly164Arg, XP_016884742.1:p.Gly164Arg

Select item 144587839310.

rs1445878393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152990419 (GRCh38)
X:152158963 (GRCh37)
Canonical SPDI:: NC_000023.11:152990418:G:A
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.152990419G>A, NW_003871103.3:g.424402G>A, NG_021341.2:g.8709C>T, NM_052926.3:c.1180C>T, NM_052926.2:c.1180C>T, NM_001184924.2:c.1180C>T, NM_001184924.1:c.1180C>T, NM_001103150.1:c.1180C>T, NM_001103151.1:c.1180C>T, NW_025791818.1:g.605609G>A, NC_000023.10:g.152158963G>A, XM_017029252.2:c.1180C>T, XM_017029252.1:c.1180C>T, XM_017029253.2:c.1180C>T, XM_017029253.1:c.1180C>T, NP_443158.1:p.Arg394Trp, NP_001171853.1:p.Arg394Trp, NP_001096620.1:p.Arg394Trp, NP_001096621.1:p.Arg394Trp, XP_016884741.1:p.Arg394Trp, XP_016884742.1:p.Arg394Trp

Select item 143427088111.

rs1434270881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152990285 (GRCh38)
X:152158829 (GRCh37)
Canonical SPDI:: NC_000023.11:152990284:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.152990285C>T, NW_003871103.3:g.424268C>T, NG_021341.2:g.8843G>A, NM_052926.3:c.1314G>A, NM_052926.2:c.1314G>A, NM_001184924.2:c.1314G>A, NM_001184924.1:c.1314G>A, NM_001103150.1:c.1314G>A, NM_001103151.1:c.1314G>A, NW_025791818.1:g.605475C>T, NC_000023.10:g.152158829C>T, XM_017029252.2:c.1314G>A, XM_017029252.1:c.1314G>A, XM_017029253.2:c.1314G>A, XM_017029253.1:c.1314G>A

Select item 142389846012.

rs1423898460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152990596 (GRCh38)
X:152159140 (GRCh37)
Canonical SPDI:: NC_000023.11:152990595:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.152990596C>T, NW_003871103.3:g.424579C>T, NG_021341.2:g.8532G>A, NM_052926.3:c.1003G>A, NM_052926.2:c.1003G>A, NM_001184924.2:c.1003G>A, NM_001184924.1:c.1003G>A, NM_001103150.1:c.1003G>A, NM_001103151.1:c.1003G>A, NW_025791818.1:g.605786C>T, NC_000023.10:g.152159140C>T, XM_017029252.2:c.1003G>A, XM_017029252.1:c.1003G>A, XM_017029253.2:c.1003G>A, XM_017029253.1:c.1003G>A, NP_443158.1:p.Glu335Lys, NP_001171853.1:p.Glu335Lys, NP_001096620.1:p.Glu335Lys, NP_001096621.1:p.Glu335Lys, XP_016884741.1:p.Glu335Lys, XP_016884742.1:p.Glu335Lys

Select item 142027868113.

rs1420278681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:152991294 (GRCh38)
X:152159838 (GRCh37)
Canonical SPDI:: NC_000023.11:152991293:A:C
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152991294A>C, NW_003871103.3:g.425277A>C, NG_021341.2:g.7834T>G, NM_052926.3:c.305T>G, NM_052926.2:c.305T>G, NM_001184924.2:c.305T>G, NM_001184924.1:c.305T>G, NM_001103150.1:c.305T>G, NM_001103151.1:c.305T>G, NW_025791818.1:g.606484A>C, NC_000023.10:g.152159838A>C, XM_017029252.2:c.305T>G, XM_017029252.1:c.305T>G, XM_017029253.2:c.305T>G, XM_017029253.1:c.305T>G, NP_443158.1:p.Phe102Cys, NP_001171853.1:p.Phe102Cys, NP_001096620.1:p.Phe102Cys, NP_001096621.1:p.Phe102Cys, XP_016884741.1:p.Phe102Cys, XP_016884742.1:p.Phe102Cys

Select item 141846298114.

rs1418462981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:152990582 (GRCh38)
X:152159126 (GRCh37)
Canonical SPDI:: NC_000023.11:152990581:C:G
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152990582C>G, NW_003871103.3:g.424565C>G, NG_021341.2:g.8546G>C, NM_052926.3:c.1017G>C, NM_052926.2:c.1017G>C, NM_001184924.2:c.1017G>C, NM_001184924.1:c.1017G>C, NM_001103150.1:c.1017G>C, NM_001103151.1:c.1017G>C, NW_025791818.1:g.605772C>G, NC_000023.10:g.152159126C>G, XM_017029252.2:c.1017G>C, XM_017029252.1:c.1017G>C, XM_017029253.2:c.1017G>C, XM_017029253.1:c.1017G>C, NP_443158.1:p.Lys339Asn, NP_001171853.1:p.Lys339Asn, NP_001096620.1:p.Lys339Asn, NP_001096621.1:p.Lys339Asn, XP_016884741.1:p.Lys339Asn, XP_016884742.1:p.Lys339Asn

Select item 140783101615.

rs1407831016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152991118 (GRCh38)
X:152159662 (GRCh37)
Canonical SPDI:: NC_000023.11:152991117:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.152991118C>T, NW_003871103.3:g.425101C>T, NG_021341.2:g.8010G>A, NM_052926.3:c.481G>A, NM_052926.2:c.481G>A, NM_001184924.2:c.481G>A, NM_001184924.1:c.481G>A, NM_001103150.1:c.481G>A, NM_001103151.1:c.481G>A, NW_025791818.1:g.606308C>T, NC_000023.10:g.152159662C>T, XM_017029252.2:c.481G>A, XM_017029252.1:c.481G>A, XM_017029253.2:c.481G>A, XM_017029253.1:c.481G>A, NP_443158.1:p.Val161Met, NP_001171853.1:p.Val161Met, NP_001096620.1:p.Val161Met, NP_001096621.1:p.Val161Met, XP_016884741.1:p.Val161Met, XP_016884742.1:p.Val161Met

Select item 139984178716.

rs1399841787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:152991287 (GRCh38)
X:152159831 (GRCh37)
Canonical SPDI:: NC_000023.11:152991286:A:C
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152991287A>C, NW_003871103.3:g.425270A>C, NG_021341.2:g.7841T>G, NM_052926.3:c.312T>G, NM_052926.2:c.312T>G, NM_001184924.2:c.312T>G, NM_001184924.1:c.312T>G, NM_001103150.1:c.312T>G, NM_001103151.1:c.312T>G, NW_025791818.1:g.606477A>C, NC_000023.10:g.152159831A>C, XM_017029252.2:c.312T>G, XM_017029252.1:c.312T>G, XM_017029253.2:c.312T>G, XM_017029253.1:c.312T>G, NP_443158.1:p.Ser104Arg, NP_001171853.1:p.Ser104Arg, NP_001096620.1:p.Ser104Arg, NP_001096621.1:p.Ser104Arg, XP_016884741.1:p.Ser104Arg, XP_016884742.1:p.Ser104Arg

Select item 139854138917.

rs1398541389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:152990706 (GRCh38)
X:152159250 (GRCh37)
Canonical SPDI:: NC_000023.11:152990705:A:G
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152990706A>G, NW_003871103.3:g.424689A>G, NG_021341.2:g.8422T>C, NM_052926.3:c.893T>C, NM_052926.2:c.893T>C, NM_001184924.2:c.893T>C, NM_001184924.1:c.893T>C, NM_001103150.1:c.893T>C, NM_001103151.1:c.893T>C, NW_025791818.1:g.605896A>G, NC_000023.10:g.152159250A>G, XM_017029252.2:c.893T>C, XM_017029252.1:c.893T>C, XM_017029253.2:c.893T>C, XM_017029253.1:c.893T>C, NP_443158.1:p.Met298Thr, NP_001171853.1:p.Met298Thr, NP_001096620.1:p.Met298Thr, NP_001096621.1:p.Met298Thr, XP_016884741.1:p.Met298Thr, XP_016884742.1:p.Met298Thr

Select item 139811621918.

rs1398116219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:152990299 (GRCh38)
X:152158843 (GRCh37)
Canonical SPDI:: NC_000023.11:152990298:C:A,NC_000023.11:152990298:C:T
Gene:: PNMA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD_exomes)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.152990299C>A, NC_000023.11:g.152990299C>T, NW_003871103.3:g.424282C>A, NW_003871103.3:g.424282C>T, NG_021341.2:g.8829G>T, NG_021341.2:g.8829G>A, NM_052926.3:c.1300G>T, NM_052926.3:c.1300G>A, NM_052926.2:c.1300G>T, NM_052926.2:c.1300G>A, NM_001184924.2:c.1300G>T, NM_001184924.2:c.1300G>A, NM_001184924.1:c.1300G>T, NM_001184924.1:c.1300G>A, NM_001103150.1:c.1300G>T, NM_001103150.1:c.1300G>A, NM_001103151.1:c.1300G>T, NM_001103151.1:c.1300G>A, NW_025791818.1:g.605489C>A, NW_025791818.1:g.605489C>T, NC_000023.10:g.152158843C>A, NC_000023.10:g.152158843C>T, XM_017029252.2:c.1300G>T, XM_017029252.2:c.1300G>A, XM_017029252.1:c.1300G>T, XM_017029252.1:c.1300G>A, XM_017029253.2:c.1300G>T, XM_017029253.2:c.1300G>A, XM_017029253.1:c.1300G>T, XM_017029253.1:c.1300G>A, NP_443158.1:p.Glu434Ter, NP_443158.1:p.Glu434Lys, NP_001171853.1:p.Glu434Ter, NP_001171853.1:p.Glu434Lys, NP_001096620.1:p.Glu434Ter, NP_001096620.1:p.Glu434Lys, NP_001096621.1:p.Glu434Ter, NP_001096621.1:p.Glu434Lys, XP_016884741.1:p.Glu434Ter, XP_016884741.1:p.Glu434Lys, XP_016884742.1:p.Glu434Ter, XP_016884742.1:p.Glu434Lys

Select item 139504572119.

rs1395045721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:152991283 (GRCh38)
X:152159827 (GRCh37)
Canonical SPDI:: NC_000023.11:152991282:G:T
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152991283G>T, NW_003871103.3:g.425266G>T, NG_021341.2:g.7845C>A, NM_052926.3:c.316C>A, NM_052926.2:c.316C>A, NM_001184924.2:c.316C>A, NM_001184924.1:c.316C>A, NM_001103150.1:c.316C>A, NM_001103151.1:c.316C>A, NW_025791818.1:g.606473G>T, NC_000023.10:g.152159827G>T, XM_017029252.2:c.316C>A, XM_017029252.1:c.316C>A, XM_017029253.2:c.316C>A, XM_017029253.1:c.316C>A, NP_443158.1:p.Leu106Met, NP_001171853.1:p.Leu106Met, NP_001096620.1:p.Leu106Met, NP_001096621.1:p.Leu106Met, XP_016884741.1:p.Leu106Met, XP_016884742.1:p.Leu106Met

Select item 137959654920.

rs1379596549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:152991302 (GRCh38)
X:152159846 (GRCh37)
Canonical SPDI:: NC_000023.11:152991301:A:C,NC_000023.11:152991301:A:G
Gene:: PNMA5 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.001027/3 (KOREAN)
HGVS:: NC_000023.11:g.152991302A>C, NC_000023.11:g.152991302A>G, NW_003871103.3:g.425285A>C, NW_003871103.3:g.425285A>G, NG_021341.2:g.7826T>G, NG_021341.2:g.7826T>C, NM_052926.3:c.297T>G, NM_052926.3:c.297T>C, NM_052926.2:c.297T>G, NM_052926.2:c.297T>C, NM_001184924.2:c.297T>G, NM_001184924.2:c.297T>C, NM_001184924.1:c.297T>G, NM_001184924.1:c.297T>C, NM_001103150.1:c.297T>G, NM_001103150.1:c.297T>C, NM_001103151.1:c.297T>G, NM_001103151.1:c.297T>C, NW_025791818.1:g.606492A>C, NW_025791818.1:g.606492A>G, NC_000023.10:g.152159846A>C, NC_000023.10:g.152159846A>G, XM_017029252.2:c.297T>G, XM_017029252.2:c.297T>C, XM_017029252.1:c.297T>G, XM_017029252.1:c.297T>C, XM_017029253.2:c.297T>G, XM_017029253.2:c.297T>C, XM_017029253.1:c.297T>G, XM_017029253.1:c.297T>C, NP_443158.1:p.Asp99Glu, NP_001171853.1:p.Asp99Glu, NP_001096620.1:p.Asp99Glu, NP_001096621.1:p.Asp99Glu, XP_016884741.1:p.Asp99Glu, XP_016884742.1:p.Asp99Glu

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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 269

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