Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66020601C>T , CM000673.2:g.66020601C>T | GRCh38 |
| NC_000011.9:g.65788072C>T , CM000673.1:g.65788072C>T | GRCh37 |
| NC_000011.8:g.65544648C>T | NCBI36 |
| NG_016285.1:g.10917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312106.6:c.1954G>A MANE Select | ENSP00000309052.5:p.Val652Ile | |
| ENST00000312106.5:c.1954G>A | ENSP00000309052.5:p.Val652Ile | |
| ENST00000529244.1:n.265+210G>A | ||
| NM_053054.3:c.1954G>A | NP_444282.3:p.Val652Ile | |
| XR_949785.1:n.2094G>A | ||
| XR_949786.1:n.2067+210G>A | ||
| XR_949787.1:n.2047G>A | ||
| XR_002957121.1:n.2065+210G>A | ||
| XR_002957122.1:n.2019+210G>A | ||
| XR_949785.2:n.2092G>A | ||
| XR_949787.2:n.2046G>A | ||
| NM_053054.4:c.1954G>A MANE Select | NP_444282.3:p.Val652Ile |