Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91949962A>C , CM000671.2:g.91949962A>C | GRCh38 |
| NC_000009.11:g.94712244A>C , CM000671.1:g.94712244A>C | GRCh37 |
| NC_000009.10:g.93752065A>C | NCBI36 |
| NG_008089.1:g.5201T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004560.4:c.2T>G MANE Select | NP_004551.2:p.Met1Arg |
| ENST00000375708.4:c.2T>G MANE Select | ENSP00000364860.3:p.Met1Arg |
| NM_001318204.1:c.2T>G | NP_001305133.1:p.Met1Arg |
| NM_001318204.2:c.2T>G | NP_001305133.1:p.Met1Arg |
| NM_004560.3:c.2T>G | NP_004551.2:p.Met1Arg |
| ENST00000375708.3:c.2T>G | ENSP00000364860.3:p.Met1Arg |
| XR_001746315.1:n.245T>G |