SNP Links for Protein (Select 425905346) - SNP

Links from Protein

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Select item 14901591531.

rs1490159153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49067273 (GRCh38)
X:48924809 (GRCh37)
Canonical SPDI:: NC_000023.11:49067272:G:A
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000029/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.49067273G>A, NW_004070880.2:g.1306702G>A, NG_016255.2:g.18849G>A, NM_001163321.4:c.1159G>A, NM_001163321.3:c.1159G>A, NM_001163321.2:c.1159G>A, NM_001163323.3:c.1018G>A, NM_001163323.2:c.1018G>A, NM_033626.3:c.1054G>A, NM_001271836.2:c.1054G>A, NM_001271836.1:c.1054G>A, NM_001163322.2:c.1018G>A, NM_001271835.1:c.1054G>A, NW_025791820.1:g.226108G>A, NC_000023.10:g.48924809G>A, NP_001156793.2:p.Val387Ile, NP_001156795.1:p.Val340Ile, NP_296375.1:p.Val352Ile, NP_001258765.1:p.Val352Ile, NP_001156794.1:p.Val340Ile, NP_001258764.1:p.Val352Ile

Select item 14839125092.

rs1483912509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49068077 (GRCh38)
X:48925613 (GRCh37)
Canonical SPDI:: NC_000023.11:49068076:C:T
Gene:: CCDC120 (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=0.000015/4 (TOPMED)
T=0.000028/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49068077C>T, NW_004070880.2:g.1307506C>T, NG_016255.2:g.19653C>T, NM_001163321.4:c.1963C>T, NM_001163321.3:c.1963C>T, NM_001163321.2:c.1963C>T, NM_001163323.3:c.1822C>T, NM_001163323.2:c.1822C>T, NM_033626.3:c.1858C>T, NM_001271836.2:c.1858C>T, NM_001271836.1:c.1858C>T, NM_001163322.2:c.1822C>T, NM_001271835.1:c.1858C>T, NW_025791820.1:g.226912C>T, NC_000023.10:g.48925613C>T, NP_001156793.2:p.Pro655Ser, NP_001156795.1:p.Pro608Ser, NP_296375.1:p.Pro620Ser, NP_001258765.1:p.Pro620Ser, NP_001156794.1:p.Pro608Ser, NP_001258764.1:p.Pro620Ser

Select item 14832160953.

rs1483216095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49065753 (GRCh38)
X:48923284 (GRCh37)
Canonical SPDI:: NC_000023.11:49065752:A:G
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.49065753A>G, NW_004070880.2:g.1305182A>G, NG_016255.2:g.17324A>G, NM_001163321.4:c.969A>G, NM_001163321.3:c.969A>G, NM_001163321.2:c.969A>G, NM_001163323.3:c.828A>G, NM_001163323.2:c.828A>G, NM_033626.3:c.864A>G, NM_001271836.2:c.864A>G, NM_001271836.1:c.864A>G, NM_001163322.2:c.828A>G, NM_001271835.1:c.864A>G, NW_025791820.1:g.224588A>G, NC_000023.10:g.48923284A>G

Select item 14798005104.

rs1479800510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49067401 (GRCh38)
X:48924937 (GRCh37)
Canonical SPDI:: NC_000023.11:49067400:T:C
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.49067401T>C, NW_004070880.2:g.1306830T>C, NG_016255.2:g.18977T>C, NM_001163321.4:c.1287T>C, NM_001163321.3:c.1287T>C, NM_001163321.2:c.1287T>C, NM_001163323.3:c.1146T>C, NM_001163323.2:c.1146T>C, NM_033626.3:c.1182T>C, NM_001271836.2:c.1182T>C, NM_001271836.1:c.1182T>C, NM_001163322.2:c.1146T>C, NM_001271835.1:c.1182T>C, NW_025791820.1:g.226236T>C, NC_000023.10:g.48924937T>C

Select item 14791383765.

rs1479138376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:49065536 (GRCh38)
X:48923067 (GRCh37)
Canonical SPDI:: NC_000023.11:49065535:G:T
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49065536G>T, NW_004070880.2:g.1304965G>T, NG_016255.2:g.17107G>T, NM_001163321.4:c.870G>T, NM_001163321.3:c.870G>T, NM_001163321.2:c.870G>T, NM_001163323.3:c.729G>T, NM_001163323.2:c.729G>T, NM_033626.3:c.765G>T, NM_001271836.2:c.765G>T, NM_001271836.1:c.765G>T, NM_001163322.2:c.729G>T, NM_001271835.1:c.765G>T, NW_025791820.1:g.224371G>T, NC_000023.10:g.48923067G>T

Select item 14750427316.

rs1475042731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:49063952 (GRCh38)
X:48921483 (GRCh37)
Canonical SPDI:: NC_000023.11:49063951:A:C,NC_000023.11:49063951:A:G
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.49063952A>C, NC_000023.11:g.49063952A>G, NW_004070880.2:g.1303381A>C, NW_004070880.2:g.1303381A>G, NG_016255.2:g.15523A>C, NG_016255.2:g.15523A>G, NM_001163321.4:c.380A>C, NM_001163321.4:c.380A>G, NM_001163321.3:c.380A>C, NM_001163321.3:c.380A>G, NM_001163321.2:c.380A>C, NM_001163321.2:c.380A>G, NM_001163323.3:c.239A>C, NM_001163323.3:c.239A>G, NM_001163323.2:c.239A>C, NM_001163323.2:c.239A>G, NM_033626.3:c.275A>C, NM_033626.3:c.275A>G, NM_001271836.2:c.275A>C, NM_001271836.2:c.275A>G, NM_001271836.1:c.275A>C, NM_001271836.1:c.275A>G, NM_001163322.2:c.239A>C, NM_001163322.2:c.239A>G, NM_001271835.1:c.275A>C, NM_001271835.1:c.275A>G, NW_025791820.1:g.222787A>C, NW_025791820.1:g.222787A>G, NC_000023.10:g.48921483A>C, NC_000023.10:g.48921483A>G, NP_001156793.2:p.Tyr127Ser, NP_001156793.2:p.Tyr127Cys, NP_001156795.1:p.Tyr80Ser, NP_001156795.1:p.Tyr80Cys, NP_296375.1:p.Tyr92Ser, NP_296375.1:p.Tyr92Cys, NP_001258765.1:p.Tyr92Ser, NP_001258765.1:p.Tyr92Cys, NP_001156794.1:p.Tyr80Ser, NP_001156794.1:p.Tyr80Cys, NP_001258764.1:p.Tyr92Ser, NP_001258764.1:p.Tyr92Cys

Select item 14711203967.

rs1471120396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49067592 (GRCh38)
X:48925128 (GRCh37)
Canonical SPDI:: NC_000023.11:49067591:G:A
Gene:: CCDC120 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49067592G>A, NW_004070880.2:g.1307021G>A, NG_016255.2:g.19168G>A, NM_001163321.4:c.1478G>A, NM_001163321.3:c.1478G>A, NM_001163321.2:c.1478G>A, NM_001163323.3:c.1337G>A, NM_001163323.2:c.1337G>A, NM_033626.3:c.1373G>A, NM_001271836.2:c.1373G>A, NM_001271836.1:c.1373G>A, NM_001163322.2:c.1337G>A, NM_001271835.1:c.1373G>A, NW_025791820.1:g.226427G>A, NC_000023.10:g.48925128G>A, NP_001156793.2:p.Gly493Asp, NP_001156795.1:p.Gly446Asp, NP_296375.1:p.Gly458Asp, NP_001258765.1:p.Gly458Asp, NP_001156794.1:p.Gly446Asp, NP_001258764.1:p.Gly458Asp

Select item 14676166568.

rs1467616656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49068026 (GRCh38)
X:48925562 (GRCh37)
Canonical SPDI:: NC_000023.11:49068025:G:A
Gene:: CCDC120 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49068026G>A, NW_004070880.2:g.1307455G>A, NG_016255.2:g.19602G>A, NM_001163321.4:c.1912G>A, NM_001163321.3:c.1912G>A, NM_001163321.2:c.1912G>A, NM_001163323.3:c.1771G>A, NM_001163323.2:c.1771G>A, NM_033626.3:c.1807G>A, NM_001271836.2:c.1807G>A, NM_001271836.1:c.1807G>A, NM_001163322.2:c.1771G>A, NM_001271835.1:c.1807G>A, NW_025791820.1:g.226861G>A, NC_000023.10:g.48925562G>A, NP_001156793.2:p.Gly638Arg, NP_001156795.1:p.Gly591Arg, NP_296375.1:p.Gly603Arg, NP_001258765.1:p.Gly603Arg, NP_001156794.1:p.Gly591Arg, NP_001258764.1:p.Gly603Arg

Select item 14521747269.

rs1452174726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49067419 (GRCh38)
X:48924955 (GRCh37)
Canonical SPDI:: NC_000023.11:49067418:C:T
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.49067419C>T, NW_004070880.2:g.1306848C>T, NG_016255.2:g.18995C>T, NM_001163321.4:c.1305C>T, NM_001163321.3:c.1305C>T, NM_001163321.2:c.1305C>T, NM_001163323.3:c.1164C>T, NM_001163323.2:c.1164C>T, NM_033626.3:c.1200C>T, NM_001271836.2:c.1200C>T, NM_001271836.1:c.1200C>T, NM_001163322.2:c.1164C>T, NM_001271835.1:c.1200C>T, NW_025791820.1:g.226254C>T, NC_000023.10:g.48924955C>T

Select item 145144545210.

rs1451445452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49067551 (GRCh38)
X:48925087 (GRCh37)
Canonical SPDI:: NC_000023.11:49067550:C:T
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49067551C>T, NW_004070880.2:g.1306980C>T, NG_016255.2:g.19127C>T, NM_001163321.4:c.1437C>T, NM_001163321.3:c.1437C>T, NM_001163321.2:c.1437C>T, NM_001163323.3:c.1296C>T, NM_001163323.2:c.1296C>T, NM_033626.3:c.1332C>T, NM_001271836.2:c.1332C>T, NM_001271836.1:c.1332C>T, NM_001163322.2:c.1296C>T, NM_001271835.1:c.1332C>T, NW_025791820.1:g.226386C>T, NC_000023.10:g.48925087C>T

Select item 144831597811.

rs1448315978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49067656 (GRCh38)
X:48925192 (GRCh37)
Canonical SPDI:: NC_000023.11:49067655:T:C
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.49067656T>C, NW_004070880.2:g.1307085T>C, NG_016255.2:g.19232T>C, NM_001163321.4:c.1542T>C, NM_001163321.3:c.1542T>C, NM_001163321.2:c.1542T>C, NM_001163323.3:c.1401T>C, NM_001163323.2:c.1401T>C, NM_033626.3:c.1437T>C, NM_001271836.2:c.1437T>C, NM_001271836.1:c.1437T>C, NM_001163322.2:c.1401T>C, NM_001271835.1:c.1437T>C, NW_025791820.1:g.226491T>C, NC_000023.10:g.48925192T>C

Select item 144777505712.

rs1447775057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:49068004 (GRCh38)
X:48925540 (GRCh37)
Canonical SPDI:: NC_000023.11:49068003:T:G
Gene:: CCDC120 (Varview)
Functional Consequence:: stop_gained,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.49068004T>G, NW_004070880.2:g.1307433T>G, NG_016255.2:g.19580T>G, NM_001163321.4:c.1890T>G, NM_001163321.3:c.1890T>G, NM_001163321.2:c.1890T>G, NM_001163323.3:c.1749T>G, NM_001163323.2:c.1749T>G, NM_033626.3:c.1785T>G, NM_001271836.2:c.1785T>G, NM_001271836.1:c.1785T>G, NM_001163322.2:c.1749T>G, NM_001271835.1:c.1785T>G, NW_025791820.1:g.226839T>G, NC_000023.10:g.48925540T>G, NP_001156793.2:p.Tyr630Ter, NP_001156795.1:p.Tyr583Ter, NP_296375.1:p.Tyr595Ter, NP_001258765.1:p.Tyr595Ter, NP_001156794.1:p.Tyr583Ter, NP_001258764.1:p.Tyr595Ter

Select item 143683725113.

rs1436837251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49067909 (GRCh38)
X:48925445 (GRCh37)
Canonical SPDI:: NC_000023.11:49067908:A:G
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49067909A>G, NW_004070880.2:g.1307338A>G, NG_016255.2:g.19485A>G, NM_001163321.4:c.1795A>G, NM_001163321.3:c.1795A>G, NM_001163321.2:c.1795A>G, NM_001163323.3:c.1654A>G, NM_001163323.2:c.1654A>G, NM_033626.3:c.1690A>G, NM_001271836.2:c.1690A>G, NM_001271836.1:c.1690A>G, NM_001163322.2:c.1654A>G, NM_001271835.1:c.1690A>G, NW_025791820.1:g.226744A>G, NC_000023.10:g.48925445A>G, NP_001156793.2:p.Ile599Val, NP_001156795.1:p.Ile552Val, NP_296375.1:p.Ile564Val, NP_001258765.1:p.Ile564Val, NP_001156794.1:p.Ile552Val, NP_001258764.1:p.Ile564Val

Select item 143388564914.

rs1433885649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:49065484 (GRCh38)
X:48923015 (GRCh37)
Canonical SPDI:: NC_000023.11:49065483:A:T
Gene:: CCDC120 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49065484A>T, NW_004070880.2:g.1304913A>T, NG_016255.2:g.17055A>T, NM_001163321.4:c.818A>T, NM_001163321.3:c.818A>T, NM_001163321.2:c.818A>T, NM_001163323.3:c.677A>T, NM_001163323.2:c.677A>T, NM_033626.3:c.713A>T, NM_001271836.2:c.713A>T, NM_001271836.1:c.713A>T, NM_001163322.2:c.677A>T, NM_001271835.1:c.713A>T, NW_025791820.1:g.224319A>T, NC_000023.10:g.48923015A>T, NP_001156793.2:p.Glu273Val, NP_001156795.1:p.Glu226Val, NP_296375.1:p.Glu238Val, NP_001258765.1:p.Glu238Val, NP_001156794.1:p.Glu226Val, NP_001258764.1:p.Glu238Val

Select item 142894572215.

rs1428945722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49065522 (GRCh38)
X:48923053 (GRCh37)
Canonical SPDI:: NC_000023.11:49065521:G:A
Gene:: CCDC120 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49065522G>A, NW_004070880.2:g.1304951G>A, NG_016255.2:g.17093G>A, NM_001163321.4:c.856G>A, NM_001163321.3:c.856G>A, NM_001163321.2:c.856G>A, NM_001163323.3:c.715G>A, NM_001163323.2:c.715G>A, NM_033626.3:c.751G>A, NM_001271836.2:c.751G>A, NM_001271836.1:c.751G>A, NM_001163322.2:c.715G>A, NM_001271835.1:c.751G>A, NW_025791820.1:g.224357G>A, NC_000023.10:g.48923053G>A, NP_001156793.2:p.Ala286Thr, NP_001156795.1:p.Ala239Thr, NP_296375.1:p.Ala251Thr, NP_001258765.1:p.Ala251Thr, NP_001156794.1:p.Ala239Thr, NP_001258764.1:p.Ala251Thr

Select item 142867573416.

rs1428675734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49067949 (GRCh38)
X:48925485 (GRCh37)
Canonical SPDI:: NC_000023.11:49067948:C:T
Gene:: CCDC120 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.49067949C>T, NW_004070880.2:g.1307378C>T, NG_016255.2:g.19525C>T, NM_001163321.4:c.1835C>T, NM_001163321.3:c.1835C>T, NM_001163321.2:c.1835C>T, NM_001163323.3:c.1694C>T, NM_001163323.2:c.1694C>T, NM_033626.3:c.1730C>T, NM_001271836.2:c.1730C>T, NM_001271836.1:c.1730C>T, NM_001163322.2:c.1694C>T, NM_001271835.1:c.1730C>T, NW_025791820.1:g.226784C>T, NC_000023.10:g.48925485C>T, NP_001156793.2:p.Pro612Leu, NP_001156795.1:p.Pro565Leu, NP_296375.1:p.Pro577Leu, NP_001258765.1:p.Pro577Leu, NP_001156794.1:p.Pro565Leu, NP_001258764.1:p.Pro577Leu

Select item 142654016017.

rs1426540160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49067962 (GRCh38)
X:48925498 (GRCh37)
Canonical SPDI:: NC_000023.11:49067961:C:T
Gene:: CCDC120 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000045/4 (GnomAD_exomes)
T=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.49067962C>T, NW_004070880.2:g.1307391C>T, NG_016255.2:g.19538C>T, NM_001163321.4:c.1848C>T, NM_001163321.3:c.1848C>T, NM_001163321.2:c.1848C>T, NM_001163323.3:c.1707C>T, NM_001163323.2:c.1707C>T, NM_033626.3:c.1743C>T, NM_001271836.2:c.1743C>T, NM_001271836.1:c.1743C>T, NM_001163322.2:c.1707C>T, NM_001271835.1:c.1743C>T, NW_025791820.1:g.226797C>T, NC_000023.10:g.48925498C>T

Select item 142457204718.

rs1424572047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49067243 (GRCh38)
X:48924779 (GRCh37)
Canonical SPDI:: NC_000023.11:49067242:G:A
Gene:: CCDC120 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.49067243G>A, NW_004070880.2:g.1306672G>A, NG_016255.2:g.18819G>A, NM_001163321.4:c.1129G>A, NM_001163321.3:c.1129G>A, NM_001163321.2:c.1129G>A, NM_001163323.3:c.988G>A, NM_001163323.2:c.988G>A, NM_033626.3:c.1024G>A, NM_001271836.2:c.1024G>A, NM_001271836.1:c.1024G>A, NM_001163322.2:c.988G>A, NM_001271835.1:c.1024G>A, NW_025791820.1:g.226078G>A, NC_000023.10:g.48924779G>A, NP_001156793.2:p.Asp377Asn, NP_001156795.1:p.Asp330Asn, NP_296375.1:p.Asp342Asn, NP_001258765.1:p.Asp342Asn, NP_001156794.1:p.Asp330Asn, NP_001258764.1:p.Asp342Asn

Select item 142247425219.

rs1422474252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:49067677 (GRCh38)
X:48925213 (GRCh37)
Canonical SPDI:: NC_000023.11:49067676:C:G,NC_000023.11:49067676:C:T
Gene:: CCDC120 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00001/1 (GnomAD)
T=0.000012/2 (GnomAD_exomes)
T=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.49067677C>G, NC_000023.11:g.49067677C>T, NW_004070880.2:g.1307106C>G, NW_004070880.2:g.1307106C>T, NG_016255.2:g.19253C>G, NG_016255.2:g.19253C>T, NM_001163321.4:c.1563C>G, NM_001163321.4:c.1563C>T, NM_001163321.3:c.1563C>G, NM_001163321.3:c.1563C>T, NM_001163321.2:c.1563C>G, NM_001163321.2:c.1563C>T, NM_001163323.3:c.1422C>G, NM_001163323.3:c.1422C>T, NM_001163323.2:c.1422C>G, NM_001163323.2:c.1422C>T, NM_033626.3:c.1458C>G, NM_033626.3:c.1458C>T, NM_001271836.2:c.1458C>G, NM_001271836.2:c.1458C>T, NM_001271836.1:c.1458C>G, NM_001271836.1:c.1458C>T, NM_001163322.2:c.1422C>G, NM_001163322.2:c.1422C>T, NM_001271835.1:c.1458C>G, NM_001271835.1:c.1458C>T, NW_025791820.1:g.226512C>G, NW_025791820.1:g.226512C>T, NC_000023.10:g.48925213C>G, NC_000023.10:g.48925213C>T

Select item 141454800420.

rs1414548004 [Homo sapiens]

Variant type:: DEL
Alleles:: GATCGCGGCGGCCGCCCG>- [Show Flanks]
Chromosome:: X:49064417 (GRCh38)
X:48921948 (GRCh37)
Canonical SPDI:: NC_000023.11:49064416:GATCGCGGCGGCCGCCCG:
Gene:: CCDC120 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49064417_49064434del, NW_004070880.2:g.1303846_1303863del, NG_016255.2:g.15988_16005del, NM_001163321.4:c.477_494del, NM_001163321.3:c.477_494del, NM_001163321.2:c.477_494del, NM_001163323.3:c.336_353del, NM_001163323.2:c.336_353del, NM_033626.3:c.372_389del, NM_001271836.2:c.372_389del, NM_001271836.1:c.372_389del, NM_001163322.2:c.336_353del, NM_001271835.1:c.372_389del, NW_025791820.1:g.223252_223269del, NC_000023.10:g.48921948_48921965del, NP_001156793.2:p.Gln159_Arg165delinsHis, NP_001156795.1:p.Gln112_Arg118delinsHis, NP_296375.1:p.Gln124_Arg130delinsHis, NP_001258765.1:p.Gln124_Arg130delinsHis, NP_001156794.1:p.Gln112_Arg118delinsHis, NP_001258764.1:p.Gln124_Arg130delinsHis

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