Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665910C= , CM000663.2:g.172665910C= | GRCh38 |
| NC_000001.10:g.172635050C= , CM000663.1:g.172635050C= | GRCh37 |
| NC_000001.9:g.170901673C= | NCBI36 |
| NG_007269.1:g.11866C= , LRG_58:g.11866C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000639.3:c.740C= MANE Select | NP_000630.1:p.Ala247= |
| ENST00000367721.3:c.740C= MANE Select | ENSP00000356694.2:p.Ala247= |
| NM_000639.2:c.740C= | NP_000630.1:p.Ala247= |
| NM_001302746.1:c.*310C= | NP_001289675.1:n.*310C= |
| NM_001302746.2:c.*310C= | NP_001289675.1:n.*310C= |
| ENST00000340030.4:c.*310C= | ENSP00000344739.3:n.*310C= |
| ENST00000367721.2:c.740C= | ENSP00000356694.2:p.Ala247= |