Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436774T>G , CM000678.2:g.67436774T>G | GRCh38 |
| NC_000016.9:g.67470677T>G , CM000678.1:g.67470677T>G | GRCh37 |
| NC_000016.8:g.66028178T>G | NCBI36 |
| NG_011482.1:g.49413A>C | |
| NG_016549.1:g.10642T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.989T>G MANE Select | ENSP00000316786.5:p.Leu330Arg | |
| ENST00000326152.5:c.989T>G | ENSP00000316786.5:p.Leu330Arg | |
| NM_000196.3:c.989T>G | NP_000187.3:p.Leu330Arg | |
| NM_000196.4:c.989T>G MANE Select | NP_000187.3:p.Leu330Arg |