Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269990T>G , CM000668.2:g.31269990T>G | GRCh38 |
| NC_000006.11:g.31237767T>G , CM000668.1:g.31237767T>G | GRCh37 |
| NC_000006.10:g.31345746T>G | NCBI36 |
| NG_029422.2:g.7142A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.991A>C MANE Select | ENSP00000365402.5:p.Met331Leu | |
| ENST00000376228.9:c.991A>C | ENSP00000365402.5:p.Met331Leu | |
| ENST00000376237.8:c.*578A>C | ENSP00000365412.4:n.*578A>C | |
| ENST00000383329.7:c.991A>C | ENSP00000372819.3:p.Met331Leu | |
| ENST00000470363.5:n.309A>C | ||
| ENST00000487245.5:n.1350A>C | ||
| NM_002117.5:c.991A>C | NP_002108.4:p.Met331Leu | |
| NM_002117.6:c.991A>C MANE Select | NP_002108.4:p.Met331Leu |