Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999187A>T , CM000663.2:g.54999187A>T | GRCh38 |
| NC_000001.10:g.55464860A>T , CM000663.1:g.55464860A>T | GRCh37 |
| NC_000001.9:g.55237448A>T | NCBI36 |
| NG_008965.1:g.5244A>T | |
| NG_008965.2:g.5255A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057176.3:c.1A>T MANE Select | NP_476517.1:p.Met1Leu |
| ENST00000651561.1:c.1A>T MANE Select | ENSP00000498282.1:p.Met1Leu |
| NM_057176.2:c.1A>T | NP_476517.1:p.Met1Leu |
| ENST00000371265.4:c.1A>T | ENSP00000360312.4:p.Met1Leu |