Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001285G>C , CM000683.2:g.46001285G>C | GRCh38 |
| NC_000021.8:g.47421199G>C , CM000683.1:g.47421199G>C | GRCh37 |
| NC_000021.7:g.46245627G>C | NCBI36 |
| NG_008674.1:g.24537G>C , LRG_475:g.24537G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.254G>C | ||
| ENST00000361866.8:c.1855G>C MANE Select | ENSP00000355180.3:p.Val619Leu | |
| ENST00000361866.7:c.1855G>C | ENSP00000355180.3:p.Val619Leu | |
| ENST00000463060.5:n.254G>C | ||
| ENST00000498614.5:n.89G>C | ||
| ENST00000612273.1:c.1849G>C | ENSP00000483630.1:p.Val617Leu | |
| NM_001848.2:c.1855G>C , LRG_475t1:c.1855G>C | NP_001839.2:p.Val619Leu | |
| NM_001848.3:c.1855G>C MANE Select | NP_001839.2:p.Val619Leu |