Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160548597A>G , CM000668.2:g.160548597A>G | GRCh38 |
| NC_000006.11:g.160969629A>G , CM000668.1:g.160969629A>G | GRCh37 |
| NC_000006.10:g.160889619A>G | NCBI36 |
| NG_016147.1:g.122779T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005577.4:c.5036T>C MANE Select | NP_005568.2:p.Met1679Thr |
| ENST00000316300.10:c.5036T>C MANE Select | ENSP00000321334.6:p.Met1679Thr |
| NM_005577.2:c.5036T>C | NP_005568.2:p.Met1679Thr |
| NM_005577.3:c.5036T>C | NP_005568.2:p.Met1679Thr |
| ENST00000316300.9:c.5036T>C | ENSP00000321334.5:p.Met1679Thr |