Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3737108G>A , CM000668.2:g.3737108G>A | GRCh38 |
| NC_000006.11:g.3737342G>A , CM000668.1:g.3737342G>A | GRCh37 |
| NC_000006.10:g.3682341G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183373.4:c.437C>T MANE Select | NP_899229.2:p.Pro146Leu |
| ENST00000380283.5:c.437C>T MANE Select | ENSP00000369636.5:p.Pro146Leu |
| NM_183373.3:c.437C>T | NP_899229.2:p.Pro146Leu |
| ENST00000380277.6:c.280C>T | |
| ENST00000380283.4:c.437C>T | ENSP00000369636.4:p.Pro146Leu |
| ENST00000477592.2:n.433C>T | |
| XM_011514393.1:c.254C>T | XP_011512695.1:p.Pro85Leu |
| XM_011514393.3:c.254C>T | XP_011512695.1:p.Pro85Leu |
| XR_001743252.2:n.1317C>T |