Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213544A>G , CM000667.2:g.1213544A>G | GRCh38 |
| NC_000005.9:g.1213659A>G , CM000667.1:g.1213659A>G | GRCh37 |
| NC_000005.8:g.1266659A>G | NCBI36 |
| NG_008282.1:g.16950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.745A>G MANE Select | ENSP00000305302.10:p.Asn249Asp | |
| ENST00000304460.10:c.745A>G | ENSP00000305302.10:p.Asn249Asp | |
| ENST00000515652.5:c.653A>G | ENSP00000425701.1:p.Gln218Arg | |
| NM_001003841.2:c.745A>G | NP_001003841.1:p.Asn249Asp | |
| NM_001003841.3:c.745A>G MANE Select | NP_001003841.1:p.Asn249Asp |