Linked Data
ClinVar Variation Id:
434322
dbSNP Id:
rs146598030
ExAC:
1:27098992 G / A
gnomAD v2:
1-27098992-G-A
gnomAD v3:
1-26772501-G-A
gnomAD v4:
1-26772501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26772501G>A , CM000663.2:g.26772501G>A | GRCh38 |
| NC_000001.10:g.27098992G>A , CM000663.1:g.27098992G>A | GRCh37 |
| NC_000001.9:g.26971579G>A | NCBI36 |
| NG_029965.1:g.81471G>A , LRG_875:g.81471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3408G>A MANE Select | ENSP00000320485.7:p.Ala1136= | |
| ENST00000374152.7:c.2259G>A | ENSP00000363267.2:p.Ala753= | |
| ENST00000430799.7:c.2259G>A | ENSP00000390317.3:p.Ala753= | |
| ENST00000636110.1:n.3328G>A | ||
| ENST00000636219.1:c.2265G>A | ENSP00000489842.1:p.Ala755= | |
| ENST00000324856.11:c.3408G>A | ENSP00000320485.7:p.Ala1136= | |
| ENST00000374152.6:c.2259G>A | ENSP00000363267.2:p.Ala753= | |
| ENST00000430799.6:c.100G>A | ||
| ENST00000457599.6:c.3408G>A | ENSP00000387636.2:p.Ala1136= | |
| ENST00000615191.4:c.2256G>A | ENSP00000478955.1:p.Ala752= | |
| NM_006015.4:c.3408G>A , LRG_875t1:c.3408G>A | NP_006006.3:p.Ala1136= | |
| NM_139135.2:c.3408G>A | NP_624361.1:p.Ala1136= | |
| NM_006015.5:c.3408G>A | NP_006006.3:p.Ala1136= | |
| NM_139135.3:c.3408G>A | NP_624361.1:p.Ala1136= | |
| NM_006015.6:c.3408G>A MANE Select | NP_006006.3:p.Ala1136= | |
| NM_139135.4:c.3408G>A | NP_624361.1:p.Ala1136= |