Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26728001G>A , CM000664.2:g.26728001G>A | GRCh38 |
| NC_000002.11:g.26950869G>A , CM000664.1:g.26950869G>A | GRCh37 |
| NC_000002.10:g.26804373G>A | NCBI36 |
| NG_033884.1:g.40289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.618G>A MANE Select | ENSP00000306275.3:p.Val206= | |
| ENST00000302909.3:c.618G>A | ENSP00000306275.3:p.Val206= | |
| ENST00000620977.1:c.249G>A | ENSP00000483136.1:p.Val83= | |
| NM_002246.2:c.618G>A | NP_002237.1:p.Val206= | |
| XM_005264293.1:c.288G>A | XP_005264350.1:p.Val96= | |
| XM_005264293.2:c.288G>A | XP_005264350.1:p.Val96= | |
| NM_002246.3:c.618G>A MANE Select | NP_002237.1:p.Val206= |