Linked Data
dbSNP Id:
rs11763760
gnomAD v2:
7-23480467-C-T
gnomAD v3:
7-23440848-C-T
gnomAD v4:
7-23440848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23440848C>T , CM000669.2:g.23440848C>T | GRCh38 |
| NC_000007.13:g.23480467C>T , CM000669.1:g.23480467C>T | GRCh37 |
| NC_000007.12:g.23446992C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258729.8:c.237-22024G>A MANE Select | ENSP00000258729.3:n.237-22024G>A | |
| ENST00000258729.7:c.237-22024G>A | ENSP00000258729.3:n.237-22024G>A | |
| ENST00000421467.6:c.236+27634G>A | ENSP00000395936.1:n.236+27634G>A | |
| ENST00000468005.1:n.487-22024G>A | ||
| ENST00000468263.5:n.156-22024G>A | ||
| ENST00000476938.5:n.143-22024G>A | ||
| ENST00000491719.5:n.329-22024G>A | ||
| NM_006547.2:c.237-22024G>A | NP_006538.2:n.237-22024G>A | |
| XM_011515089.1:c.237-22024G>A | XP_011513391.1:n.237-22024G>A | |
| XM_011515091.1:c.-119-22024G>A | XP_011513393.1:n.-119-22024G>A | |
| XM_011515092.1:c.-58-22024G>A | XP_011513394.1:n.-58-22024G>A | |
| XM_011515089.2:c.237-22024G>A | XP_011513391.1:n.237-22024G>A | |
| XM_011515091.2:c.-119-22024G>A | XP_011513393.1:n.-119-22024G>A | |
| XM_011515092.2:c.-58-22024G>A | XP_011513394.1:n.-58-22024G>A | |
| NM_006547.3:c.237-22024G>A MANE Select | NP_006538.2:n.237-22024G>A |