Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199530G>T , CM000671.2:g.137199530G>T | GRCh38 |
| NC_000009.11:g.140093982G>T , CM000671.1:g.140093982G>T | GRCh37 |
| NC_000009.10:g.139213803G>T | NCBI36 |
| NG_027801.1:g.6182C>A | |
| NG_027801.2:g.9664C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1182C>A MANE Select | ENSP00000387100.4:p.Val394= | |
| ENST00000333046.8:c.576C>A | ENSP00000327617.4:p.Val192= | |
| ENST00000409012.4:c.1182C>A | ENSP00000387100.4:p.Val394= | |
| ENST00000541945.1:n.90+4574C>A | ||
| NM_001128228.2:c.1182C>A | NP_001121700.2:p.Val394= | |
| NM_001128228.3:c.1182C>A MANE Select | NP_001121700.2:p.Val394= |