Linked Data
dbSNP Id:
rs757423573
ExAC:
7:93055787 C / A
gnomAD v2:
7-93055787-C-A
gnomAD v4:
7-93426475-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426475C>A , CM000669.2:g.93426475C>A | GRCh38 |
| NC_000007.13:g.93055787C>A , CM000669.1:g.93055787C>A | GRCh37 |
| NC_000007.12:g.92893723C>A | NCBI36 |
| NG_013005.1:g.153256G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426151.7:c.1306G>T MANE Select | ENSP00000389295.1:p.Gly436Cys | |
| ENST00000649521.1:c.1354G>T | ENSP00000497687.1:p.Gly452Cys | |
| ENST00000359558.6:c.1408G>T | ENSP00000352561.2:p.Gly470Cys | |
| ENST00000360249.8:c.*816G>T | ENSP00000353385.5:n.*816G>T | |
| ENST00000394441.5:c.1306G>T | ENSP00000377959.1:p.Gly436Cys | |
| ENST00000415529.2:c.1356G>T | ENSP00000413179.1:n.1356G>T | |
| ENST00000421592.5:c.1354G>T | ENSP00000399552.1:p.Gly452Cys | |
| ENST00000423724.5:c.1404G>T | ENSP00000391369.1:n.1404G>T | |
| ENST00000426151.5:c.1306G>T | ENSP00000389295.1:p.Gly436Cys | |
| NM_001164737.1:c.1408G>T | NP_001158209.1:p.Gly470Cys | |
| NM_001164738.1:c.1306G>T | NP_001158210.1:p.Gly436Cys | |
| NM_001742.3:c.1306G>T | NP_001733.1:p.Gly436Cys | |
| NM_001164737.2:c.1354G>T | NP_001158209.2:p.Gly452Cys | |
| NM_001742.4:c.1306G>T MANE Select | NP_001733.1:p.Gly436Cys | |
| NM_001164737.3:c.1354G>T | NP_001158209.2:p.Gly452Cys | |
| NM_001164738.2:c.1306G>T | NP_001158210.1:p.Gly436Cys |