Linked Data
dbSNP Id:
rs769302958
ExAC:
1:67519704 G / T
gnomAD v2:
1-67519704-G-T
gnomAD v3:
1-67054021-G-T
gnomAD v4:
1-67054021-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67054021G>T , CM000663.2:g.67054021G>T | GRCh38 |
| NC_000001.10:g.67519704G>T , CM000663.1:g.67519704G>T | GRCh37 |
| NC_000001.9:g.67292292G>T | NCBI36 |
| NG_012933.1:g.5377C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.-8C>A MANE Select | ENSP00000235345.5:n.-8C>A | |
| ENST00000235345.5:c.-8C>A | ENSP00000235345.5:n.-8C>A | |
| NM_015139.2:c.-8C>A | NP_055954.1:n.-8C>A | |
| XM_006710478.1:c.-8C>A | XP_006710541.1:n.-8C>A | |
| XM_011541070.1:c.-8C>A | XP_011539372.1:n.-8C>A | |
| XM_006710478.2:c.-8C>A | XP_006710541.1:n.-8C>A | |
| XM_011541070.2:c.-8C>A | XP_011539372.1:n.-8C>A | |
| XR_001737057.2:n.403C>A | ||
| XR_001737058.2:n.396C>A | ||
| NM_015139.3:c.-8C>A MANE Select | NP_055954.1:n.-8C>A |