Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934002C>A , CM000681.2:g.7934002C>A | GRCh38 |
| NC_000019.9:g.7998887C>A , CM000681.1:g.7998887C>A | GRCh37 |
| NC_000019.8:g.7904887C>A | NCBI36 |
| NG_051180.1:g.14822G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.545G>T MANE Select | ENSP00000270538.2:p.Gly182Val | |
| ENST00000270538.7:c.545G>T | ENSP00000270538.2:p.Gly182Val | |
| ENST00000595831.5:c.532G>T | ||
| ENST00000595876.5:c.*233G>T | ENSP00000471596.1:n.*233G>T | |
| ENST00000597926.1:c.449G>T | ENSP00000469389.1:p.Gly150Val | |
| ENST00000600748.5:n.530G>T | ||
| NM_006351.3:c.545G>T | NP_006342.2:p.Gly182Val | |
| NM_006351.4:c.545G>T MANE Select | NP_006342.2:p.Gly182Val |