Linked Data
dbSNP Id:
rs759015803
ExAC:
1:40562960 C / A
gnomAD v2:
1-40562960-C-A
gnomAD v4:
1-40097288-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097288C>A , CM000663.2:g.40097288C>A | GRCh38 |
| NC_000001.10:g.40562960C>A , CM000663.1:g.40562960C>A | GRCh37 |
| NC_000001.9:g.40335547C>A | NCBI36 |
| NG_009192.1:g.5183G>T , LRG_690:g.5183G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-50G>T | ENSP00000394863.3:n.-50G>T | |
| NM_000310.3:c.-50G>T , LRG_690t1:c.-50G>T | NP_000301.1:n.-50G>T | |
| NM_001142604.1:c.-50G>T | NP_001136076.1:n.-50G>T | |
| NM_001363695.1:c.-50G>T | NP_001350624.1:n.-50G>T |