Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016685C>G , CM000681.2:g.49016685C>G | GRCh38 |
| NC_000019.9:g.49519942C>G , CM000681.1:g.49519942C>G | GRCh37 |
| NC_000019.8:g.54211754C>G | NCBI36 |
| NG_011464.1:g.5406G>C | |
| NG_033041.1:g.27787C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.45G>C MANE Select | NP_000885.1:p.Met15Ile |
| ENST00000649238.3:c.45G>C MANE Select | ENSP00000497294.2:p.Met15Ile |
| NM_000894.2:c.45G>C | NP_000885.1:p.Met15Ile |
| ENST00000221421.6:c.45G>C | ENSP00000221421.1:p.Met15Ile |
| ENST00000391869.4:c.39G>C | ENSP00000375742.4:p.Met13Ile |
| ENST00000649284.1:n.136G>C | |
| XM_011526975.1:c.93G>C | XP_011525277.1:p.Met31Ile |