Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21710686G>A , CM000669.2:g.21710686G>A | GRCh38 |
| NC_000007.13:g.21750304G>A , CM000669.1:g.21750304G>A | GRCh37 |
| NC_000007.12:g.21716829G>A | NCBI36 |
| NG_012886.2:g.172472G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.6817G>A MANE Select | NP_001264044.1:p.Val2273Ile |
| ENST00000409508.8:c.6817G>A MANE Select | ENSP00000475939.1:p.Val2273Ile |
| NM_001277115.1:c.6817G>A | NP_001264044.1:p.Val2273Ile |
| ENST00000328843.10:c.6838G>A | ENSP00000330671.7:p.Val2280Ile |
| ENST00000409508.7:c.6817G>A | ENSP00000475939.1:p.Val2273Ile |
| ENST00000620169.4:c.6838G>A | ENSP00000481693.1:p.Val2280Ile |