Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213495C>G , CM000667.2:g.1213495C>G | GRCh38 |
| NC_000005.9:g.1213610C>G , CM000667.1:g.1213610C>G | GRCh37 |
| NC_000005.8:g.1266610C>G | NCBI36 |
| NG_008282.1:g.16901C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.696C>G MANE Select | ENSP00000305302.10:p.Val232= | |
| ENST00000304460.10:c.696C>G | ENSP00000305302.10:p.Val232= | |
| ENST00000515652.5:c.604C>G | ENSP00000425701.1:p.Arg202Gly | |
| NM_001003841.2:c.696C>G | NP_001003841.1:p.Val232= | |
| NM_001003841.3:c.696C>G MANE Select | NP_001003841.1:p.Val232= |