Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416178C>T , CM000667.2:g.96416178C>T | GRCh38 |
| NC_000005.9:g.95751882C>T , CM000667.1:g.95751882C>T | GRCh37 |
| NC_000005.8:g.95777638C>T | NCBI36 |
| NG_021161.1:g.22104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.621-57G>A MANE Select | ENSP00000308024.2:n.621-57G>A | |
| ENST00000311106.7:c.621-57G>A | ENSP00000308024.2:n.621-57G>A | |
| ENST00000508626.5:c.480-57G>A | ENSP00000421600.1:n.480-57G>A | |
| NM_000439.4:c.621-57G>A | NP_000430.3:n.621-57G>A | |
| NM_001177875.1:c.480-57G>A | NP_001171346.1:n.480-57G>A | |
| NR_130776.1:n.354+36526C>T | ||
| NM_000439.5:c.621-57G>A MANE Select | NP_000430.3:n.621-57G>A | |
| NM_001177875.2:c.480-57G>A | NP_001171346.1:n.480-57G>A |