Linked Data
ClinVar Variation Id:
102425
ClinVar RCV Id:
RCV000088659
dbSNP Id:
rs779748859
ExAC:
X:107430509 C / T
gnomAD v2:
X-107430509-C-T
gnomAD v3:
X-108187279-C-T
gnomAD v4:
X-108187279-C-T
PubMed:
PMID:23714752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108187279C>T , CM000685.2:g.108187279C>T | GRCh38 |
| NC_000023.10:g.107430509C>T , CM000685.1:g.107430509C>T | GRCh37 |
| NC_000023.9:g.107317165C>T | NCBI36 |
| NG_012059.2:g.257196G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334504.12:c.1768G>A MANE Select | ENSP00000334733.7:p.Gly590Ser | |
| ENST00000334504.11:c.1768G>A | ENSP00000334733.7:p.Gly590Ser | |
| ENST00000372216.8:c.1771G>A | ENSP00000361290.4:p.Gly591Ser | |
| ENST00000394872.6:c.1768G>A | ENSP00000378340.3:p.Gly590Ser | |
| ENST00000538570.5:c.1768G>A | ENSP00000445236.1:p.Gly590Ser | |
| ENST00000545689.2:c.1768G>A | ENSP00000443707.2:p.Gly590Ser | |
| ENST00000621266.4:c.1768G>A | ENSP00000482970.1:p.Gly590Ser | |
| NM_001287758.1:c.1768G>A | NP_001274687.1:p.Gly590Ser | |
| NM_001287759.1:c.1768G>A | NP_001274688.1:p.Gly590Ser | |
| NM_001287760.1:c.1768G>A | NP_001274689.1:p.Gly590Ser | |
| NM_001847.3:c.1771G>A | NP_001838.2:p.Gly591Ser | |
| NM_033641.3:c.1768G>A | NP_378667.1:p.Gly590Ser | |
| XM_006724617.2:c.1771G>A | XP_006724680.1:p.Gly591Ser | |
| XM_011530852.1:c.1771G>A | XP_011529154.1:p.Gly591Ser | |
| XM_011530853.1:c.1687G>A | XP_011529155.1:p.Gly563Ser | |
| XM_011530854.1:c.1771G>A | XP_011529156.1:p.Gly591Ser | |
| XM_006724617.3:c.1771G>A | XP_006724680.1:p.Gly591Ser | |
| XM_011530852.2:c.1771G>A | XP_011529154.1:p.Gly591Ser | |
| XM_011530853.3:c.1687G>A | XP_011529155.1:p.Gly563Ser | |
| XM_011530854.2:c.1771G>A | XP_011529156.1:p.Gly591Ser | |
| XR_001755650.1:n.1893G>A | ||
| NM_001847.4:c.1771G>A | NP_001838.2:p.Gly591Ser | |
| NM_033641.4:c.1768G>A MANE Select | NP_378667.1:p.Gly590Ser | |
| NM_001287758.2:c.1768G>A | NP_001274687.1:p.Gly590Ser | |
| NM_001287759.2:c.1768G>A | NP_001274688.1:p.Gly590Ser | |
| NM_001287760.2:c.1768G>A | NP_001274689.1:p.Gly590Ser |