dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236016569A>T , CM000663.2:g.236016569A>T | GRCh38 |
| NC_000001.10:g.236179869A>T , CM000663.1:g.236179869A>T | GRCh37 |
| NC_000001.9:g.234246492A>T | NCBI36 |
| NG_033228.1:g.53613T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264187.7:c.2254+579T>A MANE Select | ENSP00000264187.6:n.2254+579T>A | |
| ENST00000264187.6:c.2254+579T>A | ENSP00000264187.6:n.2254+579T>A | |
| ENST00000366595.7:c.2128+7501T>A | ENSP00000355554.3:n.2128+7501T>A | |
| NM_002508.2:c.2254+579T>A | NP_002499.2:n.2254+579T>A | |
| XM_011544195.1:c.2129-3009T>A | XP_011542497.1:n.2129-3009T>A | |
| XM_011544195.3:c.2129-3009T>A | XP_011542497.1:n.2129-3009T>A | |
| NM_002508.3:c.2254+579T>A MANE Select | NP_002499.2:n.2254+579T>A |