Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280396G>T , CM000672.2:g.80280396G>T | GRCh38 |
| NC_000010.10:g.82040152G>T , CM000672.1:g.82040152G>T | GRCh37 |
| NC_000010.9:g.82030132G>T | NCBI36 |
| NG_008083.1:g.14283C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.406-80C>A MANE Select | ENSP00000361287.3:n.406-80C>A | |
| ENST00000372213.7:c.406-80C>A | ENSP00000361287.3:n.406-80C>A | |
| ENST00000455001.1:c.217-80C>A | ENSP00000414961.1:n.217-80C>A | |
| NM_000429.2:c.406-80C>A | NP_000420.1:n.406-80C>A | |
| XM_005269842.3:c.406-80C>A | XP_005269899.1:n.406-80C>A | |
| XM_005269843.3:c.283-80C>A | XP_005269900.1:n.283-80C>A | |
| NM_000429.3:c.406-80C>A MANE Select | NP_000420.1:n.406-80C>A |