Linked Data
dbSNP Id:
rs561712
gnomAD v2:
12-117752069-C-T
gnomAD v3:
12-117314264-C-T
gnomAD v4:
12-117314264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117314264C>T , CM000674.2:g.117314264C>T | GRCh38 |
| NC_000012.11:g.117752069C>T , CM000674.1:g.117752069C>T | GRCh37 |
| NC_000012.10:g.116236452C>T | NCBI36 |
| NG_011991.2:g.52514G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.726-2672G>A MANE Select | ENSP00000320758.6:n.726-2672G>A | |
| ENST00000317775.10:c.726-2672G>A | ENSP00000320758.6:n.726-2672G>A | |
| ENST00000338101.8:c.726-2672G>A | ENSP00000337459.4:n.726-2672G>A | |
| ENST00000344089.4:c.723-2672G>A | ENSP00000339862.4:n.723-2672G>A | |
| ENST00000618760.4:c.726-2672G>A | ENSP00000477999.1:n.726-2672G>A | |
| NM_000620.4:c.726-2672G>A | NP_000611.1:n.726-2672G>A | |
| NM_001204218.1:c.726-2672G>A | NP_001191147.1:n.726-2672G>A | |
| XM_011538398.1:c.726-2672G>A | XP_011536700.1:n.726-2672G>A | |
| NM_000620.5:c.726-2672G>A MANE Select | NP_000611.1:n.726-2672G>A | |
| NM_001204218.2:c.726-2672G>A | NP_001191147.1:n.726-2672G>A |