Linked Data
dbSNP Id:
rs774819718
ExAC:
X:107400472 C / T
gnomAD v2:
X-107400472-C-T
gnomAD v4:
X-108157242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108157242C>T , CM000685.2:g.108157242C>T | GRCh38 |
| NC_000023.10:g.107400472C>T , CM000685.1:g.107400472C>T | GRCh37 |
| NC_000023.9:g.107287128C>T | NCBI36 |
| NG_012059.2:g.287233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334504.12:c.4831G>A MANE Select | ENSP00000334733.7:p.Glu1611Lys | |
| ENST00000334504.11:c.4831G>A | ENSP00000334733.7:p.Glu1611Lys | |
| ENST00000372216.8:c.4834G>A | ENSP00000361290.4:p.Glu1612Lys | |
| ENST00000394872.6:c.4882G>A | ENSP00000378340.3:p.Glu1628Lys | |
| ENST00000538570.5:c.4660G>A | ENSP00000445236.1:p.Glu1554Lys | |
| ENST00000545689.2:c.4795G>A | ENSP00000443707.2:p.Glu1599Lys | |
| ENST00000621266.4:c.4759G>A | ENSP00000482970.1:p.Glu1587Lys | |
| NM_001287758.1:c.4882G>A | NP_001274687.1:p.Glu1628Lys | |
| NM_001287759.1:c.4759G>A | NP_001274688.1:p.Glu1587Lys | |
| NM_001287760.1:c.4660G>A | NP_001274689.1:p.Glu1554Lys | |
| NM_001847.3:c.4834G>A | NP_001838.2:p.Glu1612Lys | |
| NM_033641.3:c.4831G>A | NP_378667.1:p.Glu1611Lys | |
| XM_006724617.2:c.4885G>A | XP_006724680.1:p.Glu1629Lys | |
| XM_011530852.1:c.4813G>A | XP_011529154.1:p.Glu1605Lys | |
| XM_011530853.1:c.4801G>A | XP_011529155.1:p.Glu1601Lys | |
| XM_006724617.3:c.4885G>A | XP_006724680.1:p.Glu1629Lys | |
| XM_011530852.2:c.4813G>A | XP_011529154.1:p.Glu1605Lys | |
| XM_011530853.3:c.4801G>A | XP_011529155.1:p.Glu1601Lys | |
| NM_001847.4:c.4834G>A | NP_001838.2:p.Glu1612Lys | |
| NM_033641.4:c.4831G>A MANE Select | NP_378667.1:p.Glu1611Lys | |
| NM_001287758.2:c.4882G>A | NP_001274687.1:p.Glu1628Lys | |
| NM_001287759.2:c.4759G>A | NP_001274688.1:p.Glu1587Lys | |
| NM_001287760.2:c.4660G>A | NP_001274689.1:p.Glu1554Lys |