Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74642693T>G , CM000671.2:g.74642693T>G | GRCh38 |
| NC_000009.11:g.77257609T>G , CM000671.1:g.77257609T>G | GRCh37 |
| NC_000009.10:g.76447429T>G | NCBI36 |
| NG_046926.2:g.150358T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.515T>G MANE Select | NP_008845.2:p.Met172Arg |
| ENST00000376896.8:c.515T>G MANE Select | ENSP00000366093.2:p.Met172Arg |
| NM_001365023.1:c.548T>G | NP_001351952.1:p.Met183Arg |
| NM_006914.3:c.515T>G | NP_008845.2:p.Met172Arg |
| ENST00000376896.7:c.515T>G | ENSP00000366093.2:p.Met172Arg |
| ENST00000396204.2:c.548T>G | ENSP00000379507.2:p.Met183Arg |