Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961312T>G , CM000679.2:g.63961312T>G | GRCh38 |
| NC_000017.10:g.62038672T>G , CM000679.1:g.62038672T>G | GRCh37 |
| NC_000017.9:g.59392404T>G | NCBI36 |
| NG_011699.1:g.16607A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1726A>C MANE Select | ENSP00000396320.1:p.Met576Leu | |
| ENST00000578147.5:c.1726A>C | ENSP00000463963.1:p.Met576Leu | |
| ENST00000581514.1:n.382A>C | ||
| NM_000334.4:c.1726A>C MANE Select | NP_000325.4:p.Met576Leu | |
| XM_005257566.3:c.1726A>C | XP_005257623.1:p.Met576Leu | |
| XR_934910.1:n.124+590T>G | ||
| XR_001752969.1:n.1276+590T>G | ||
| XR_934910.2:n.1276+590T>G |