Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144317333C>T , CM000670.2:g.144317333C>T | GRCh38 |
| NC_000008.10:g.145540996C>T , CM000670.1:g.145540996C>T | GRCh37 |
| NC_000008.9:g.145511804C>T | NCBI36 |
| NG_034192.1:g.14587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528718.6:c.1094G>A MANE Select | ENSP00000482264.1:p.Trp365Ter | |
| ENST00000332324.5:c.677-237G>A | ENSP00000332258.5:n.677-237G>A | |
| ENST00000524844.1:n.366+211G>A | ||
| ENST00000524965.5:n.652G>A | ||
| ENST00000527885.1:n.301G>A | ||
| ENST00000528718.5:c.1094G>A | ENSP00000482264.1:p.Trp365Ter | |
| NM_012079.5:c.1094G>A | NP_036211.2:p.Trp365Ter | |
| XM_011517356.1:c.923G>A | XP_011515658.1:p.Trp308Ter | |
| XM_011517356.3:c.923G>A | XP_011515658.1:p.Trp308Ter | |
| NM_012079.6:c.1094G>A MANE Select | NP_036211.2:p.Trp365Ter |