Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665910C>T , CM000663.2:g.172665910C>T | GRCh38 |
| NC_000001.10:g.172635050C>T , CM000663.1:g.172635050C>T | GRCh37 |
| NC_000001.9:g.170901673C>T | NCBI36 |
| NG_007269.1:g.11866C>T , LRG_58:g.11866C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000639.3:c.740C>T MANE Select | NP_000630.1:p.Ala247Val |
| ENST00000367721.3:c.740C>T MANE Select | ENSP00000356694.2:p.Ala247Val |
| NM_000639.2:c.740C>T | NP_000630.1:p.Ala247Val |
| NM_001302746.1:c.*310C>T | NP_001289675.1:n.*310C>T |
| NM_001302746.2:c.*310C>T | NP_001289675.1:n.*310C>T |
| ENST00000340030.4:c.*310C>T | ENSP00000344739.3:n.*310C>T |
| ENST00000367721.2:c.740C>T | ENSP00000356694.2:p.Ala247Val |