dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236021631T>A , CM000663.2:g.236021631T>A | GRCh38 |
| NC_000001.10:g.236184931T>A , CM000663.1:g.236184931T>A | GRCh37 |
| NC_000001.9:g.234251554T>A | NCBI36 |
| NG_033228.1:g.48551A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264187.7:c.2128+2439A>T MANE Select | ENSP00000264187.6:n.2128+2439A>T | |
| ENST00000264187.6:c.2128+2439A>T | ENSP00000264187.6:n.2128+2439A>T | |
| ENST00000366595.7:c.2128+2439A>T | ENSP00000355554.3:n.2128+2439A>T | |
| NM_002508.2:c.2128+2439A>T | NP_002499.2:n.2128+2439A>T | |
| XM_011544195.1:c.2128+2439A>T | XP_011542497.1:n.2128+2439A>T | |
| XM_011544195.3:c.2128+2439A>T | XP_011542497.1:n.2128+2439A>T | |
| NM_002508.3:c.2128+2439A>T MANE Select | NP_002499.2:n.2128+2439A>T |