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