Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001287G>T , CM000683.2:g.46001287G>T | GRCh38 |
| NC_000021.8:g.47421201G>T , CM000683.1:g.47421201G>T | GRCh37 |
| NC_000021.7:g.46245629G>T | NCBI36 |
| NG_008674.1:g.24539G>T , LRG_475:g.24539G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.256G>T | ||
| ENST00000361866.8:c.1857G>T MANE Select | ENSP00000355180.3:p.Val619= | |
| ENST00000361866.7:c.1857G>T | ENSP00000355180.3:p.Val619= | |
| ENST00000463060.5:n.256G>T | ||
| ENST00000498614.5:n.91G>T | ||
| ENST00000612273.1:c.1851G>T | ENSP00000483630.1:p.Val617= | |
| NM_001848.2:c.1857G>T , LRG_475t1:c.1857G>T | NP_001839.2:p.Val619= | |
| NM_001848.3:c.1857G>T MANE Select | NP_001839.2:p.Val619= |