Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933998C>A , CM000681.2:g.7933998C>A | GRCh38 |
| NC_000019.9:g.7998883C>A , CM000681.1:g.7998883C>A | GRCh37 |
| NC_000019.8:g.7904883C>A | NCBI36 |
| NG_051180.1:g.14826G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.549G>T MANE Select | ENSP00000270538.2:p.Val183= | |
| ENST00000270538.7:c.549G>T | ENSP00000270538.2:p.Val183= | |
| ENST00000595831.5:c.536G>T | ||
| ENST00000595876.5:c.*237G>T | ENSP00000471596.1:n.*237G>T | |
| ENST00000597926.1:c.453G>T | ENSP00000469389.1:p.Val151= | |
| ENST00000600748.5:n.534G>T | ||
| NM_006351.3:c.549G>T | NP_006342.2:p.Val183= | |
| NM_006351.4:c.549G>T MANE Select | NP_006342.2:p.Val183= |