Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719459A>G , CM000667.2:g.71719459A>G | GRCh38 |
| NC_000005.9:g.71015286A>G , CM000667.1:g.71015286A>G | GRCh37 |
| NC_000005.8:g.71051042A>G | NCBI36 |
| NG_015988.1:g.5297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.159+7A>G MANE Select | ENSP00000296777.4:n.159+7A>G | |
| ENST00000296777.4:c.159+7A>G | ENSP00000296777.4:n.159+7A>G | |
| NM_004291.3:c.159+7A>G | NP_004282.1:n.159+7A>G | |
| NM_004291.4:c.159+7A>G MANE Select | NP_004282.1:n.159+7A>G |