Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23804430G>A , CM000663.2:g.23804430G>A | GRCh38 |
| NC_000001.10:g.24130920G>A , CM000663.1:g.24130920G>A | GRCh37 |
| NC_000001.9:g.24003507G>A | NCBI36 |
| NG_007068.1:g.1375C>T | |
| NG_013061.1:g.26030C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000191.3:c.846C>T MANE Select | NP_000182.2:p.Val282= |
| ENST00000374490.8:c.846C>T MANE Select | ENSP00000363614.3:p.Val282= |
| NM_000191.2:c.846C>T | NP_000182.2:p.Val282= |
| NM_001166059.1:c.633C>T | NP_001159531.1:p.Val211= |
| NM_001166059.2:c.633C>T | NP_001159531.1:p.Val211= |
| ENST00000235958.4:c.416C>T | |
| ENST00000374487.6:c.*887C>T | ENSP00000363611.2:n.*887C>T |
| ENST00000374490.7:c.846C>T | ENSP00000363614.3:p.Val282= |
| ENST00000436439.6:c.633C>T | ENSP00000389281.2:p.Val211= |
| ENST00000509389.5:n.537C>T |