Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48416025G>C , CM000681.2:g.48416025G>C | GRCh38 |
| NC_000019.9:g.48919282G>C , CM000681.1:g.48919282G>C | GRCh37 |
| NC_000019.8:g.53611094G>C | NCBI36 |
| NG_052829.1:g.26151G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.1605G>C MANE Select | NP_000827.2:p.Met535Ile |
| ENST00000263269.4:c.1605G>C MANE Select | ENSP00000263269.2:p.Met535Ile |
| NM_000836.2:c.1605G>C | NP_000827.2:p.Met535Ile |
| ENST00000263269.3:c.1605G>C | ENSP00000263269.2:p.Met535Ile |
| XM_011526872.1:c.1605G>C | XP_011525174.1:p.Met535Ile |