Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13136132A>C , CM000681.2:g.13136132A>C | GRCh38 |
| NC_000019.9:g.13246946A>C , CM000681.1:g.13246946A>C | GRCh37 |
| NC_000019.8:g.13107946A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.925A>C | ENSP00000467120.2:p.Met309Leu | |
| ENST00000700232.1:c.925A>C | ENSP00000514870.1:p.Met309Leu | |
| ENST00000292431.5:c.925A>C MANE Select | ENSP00000292431.3:p.Met309Leu | |
| ENST00000292431.4:c.925A>C | ENSP00000292431.3:p.Met309Leu | |
| NM_052876.3:c.925A>C | NP_443108.1:p.Met309Leu | |
| XM_005259721.2:c.925A>C | XP_005259778.1:p.Met309Leu | |
| XM_005259721.3:c.925A>C | XP_005259778.1:p.Met309Leu | |
| NM_052876.4:c.925A>C MANE Select | NP_443108.1:p.Met309Leu |