Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38068128G>A , CM000671.2:g.38068128G>A | GRCh38 |
| NC_000009.11:g.38068125G>A , CM000671.1:g.38068125G>A | GRCh37 |
| NC_000009.10:g.38058125G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377707.4:c.518C>T MANE Select | ENSP00000366936.3:p.Pro173Leu | |
| ENST00000377707.3:c.518C>T | ENSP00000366936.3:p.Pro173Leu | |
| ENST00000540557.1:c.518C>T | ENSP00000457548.1:p.Pro173Leu | |
| NM_003028.2:c.518C>T | NP_003019.2:p.Pro173Leu | |
| NM_003028.3:c.518C>T MANE Select | NP_003019.2:p.Pro173Leu |