Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21681630A>G , CM000669.2:g.21681630A>G | GRCh38 |
| NC_000007.13:g.21721248A>G , CM000669.1:g.21721248A>G | GRCh37 |
| NC_000007.12:g.21687773A>G | NCBI36 |
| NG_012886.2:g.143416A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.5413A>G MANE Select | NP_001264044.1:p.Ile1805Val |
| ENST00000409508.8:c.5413A>G MANE Select | ENSP00000475939.1:p.Ile1805Val |
| NM_001277115.1:c.5413A>G | NP_001264044.1:p.Ile1805Val |
| ENST00000328843.10:c.5428A>G | ENSP00000330671.7:p.Ile1810Val |
| ENST00000409508.7:c.5413A>G | ENSP00000475939.1:p.Ile1805Val |
| ENST00000620169.4:c.5428A>G | ENSP00000481693.1:p.Ile1810Val |