Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20604981G= , CM000663.2:g.20604981G= | GRCh38 |
| NC_000001.10:g.20931474G= , CM000663.1:g.20931474G= | GRCh37 |
| NC_000001.9:g.20804061G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001785.3:c.208G= MANE Select | NP_001776.1:p.Ala70= |
| ENST00000375071.4:c.208G= MANE Select | ENSP00000364212.3:p.Ala70= |
| NM_001785.2:c.208G= | NP_001776.1:p.Ala70= |
| ENST00000375071.3:c.208G= | ENSP00000364212.3:p.Ala70= |
| ENST00000461985.1:n.252G= |