Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33007480C>T , CM000668.2:g.33007480C>T | GRCh38 |
| NC_000006.11:g.32975257C>T , CM000668.1:g.32975257C>T | GRCh37 |
| NC_000006.10:g.33083235C>T | NCBI36 |
| NG_012007.1:g.7133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.444G>A MANE Select | ENSP00000229829.3:p.Leu148= | |
| ENST00000229829.6:c.444G>A | ENSP00000229829.3:p.Leu148= | |
| ENST00000450833.3:c.*257G>A | ENSP00000403896.3:n.*257G>A | |
| ENST00000485901.1:n.155G>A | ||
| ENST00000495532.1:n.510G>A | ||
| NM_002119.3:c.444G>A | NP_002110.1:p.Leu148= | |
| XM_005249047.3:c.444G>A | XP_005249104.1:p.Leu148= | |
| XM_006715076.2:c.354G>A | XP_006715139.1:p.Leu118= | |
| XM_011514558.1:c.332-265G>A | XP_011512860.1:n.332-265G>A | |
| NM_002119.4:c.444G>A MANE Select | NP_002110.1:p.Leu148= |