Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119423488A>G , CM000670.2:g.119423488A>G | GRCh38 |
| NC_000008.10:g.120435728A>G , CM000670.1:g.120435728A>G | GRCh37 |
| NC_000008.9:g.120504909A>G | NCBI36 |
| NG_009779.1:g.12177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259526.4:c.*356A>G MANE Select | ENSP00000259526.3:n.*356A>G | |
| ENST00000259526.3:c.*356A>G | ENSP00000259526.3:n.*356A>G | |
| NM_002514.3:c.*356A>G | NP_002505.1:n.*356A>G | |
| NM_002514.4:c.*356A>G MANE Select | NP_002505.1:n.*356A>G |