Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87644974G>A , CM000678.2:g.87644974G>A | GRCh38 |
| NC_000016.9:g.87678580G>A , CM000678.1:g.87678580G>A | GRCh37 |
| NC_000016.8:g.86236081G>A | NCBI36 |
| NG_009797.1:g.47082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284262.3:c.1099G>A MANE Select | ENSP00000284262.2:p.Val367Ile | |
| ENST00000284262.2:c.1099G>A | ENSP00000284262.2:p.Val367Ile | |
| ENST00000537256.5:n.813G>A | ||
| NM_020655.3:c.1099G>A | NP_065706.2:p.Val367Ile | |
| NR_073379.2:n.813G>A | ||
| XM_006721237.2:c.688G>A | XP_006721300.1:p.Val230Ile | |
| NM_020655.4:c.1099G>A MANE Select | NP_065706.2:p.Val367Ile | |
| NR_073379.3:n.813G>A |