Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999189G= , CM000663.2:g.54999189G= | GRCh38 |
| NC_000001.10:g.55464862G= , CM000663.1:g.55464862G= | GRCh37 |
| NC_000001.9:g.55237450G= | NCBI36 |
| NG_008965.1:g.5246G= | |
| NG_008965.2:g.5257G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057176.3:c.3G= MANE Select | NP_476517.1:p.Met1= |
| ENST00000651561.1:c.3G= MANE Select | ENSP00000498282.1:p.Met1= |
| NM_057176.2:c.3G= | NP_476517.1:p.Met1= |
| ENST00000371265.4:c.3G= | ENSP00000360312.4:p.Met1= |