Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942106T>C , CM000664.2:g.44942106T>C | GRCh38 |
| NC_000002.11:g.45169245T>C , CM000664.1:g.45169245T>C | GRCh37 |
| NC_000002.10:g.45022749T>C | NCBI36 |
| NG_016222.1:g.5209T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.2T>C MANE Select | ENSP00000260653.3:p.Met1Thr | |
| ENST00000260653.4:c.2T>C | ENSP00000260653.3:p.Met1Thr | |
| NM_005413.3:c.2T>C | NP_005404.1:p.Met1Thr | |
| XM_011533042.1:c.2T>C | XP_011531344.1:p.Met1Thr | |
| NM_005413.4:c.2T>C MANE Select | NP_005404.1:p.Met1Thr |