Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7743729G>A , CM000667.2:g.7743729G>A | GRCh38 |
| NC_000005.9:g.7743842G>A , CM000667.1:g.7743842G>A | GRCh37 |
| NC_000005.8:g.7796842G>A | NCBI36 |
| NG_046913.1:g.352500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.1933G>A MANE Select | ENSP00000342952.4:p.Val645Ile | |
| ENST00000338316.8:c.1933G>A | ENSP00000342952.4:p.Val645Ile | |
| ENST00000537121.5:c.1927G>A | ENSP00000444803.2:p.Val643Ile | |
| NM_020546.2:c.1933G>A | NP_065433.2:p.Val645Ile | |
| XM_011513942.1:c.1933G>A | XP_011512244.1:p.Val645Ile | |
| XR_427657.2:n.1947G>A | ||
| XM_011513942.2:c.1933G>A | XP_011512244.1:p.Val645Ile | |
| XR_001741973.1:n.1947G>A | ||
| XR_001741974.2:n.1886-13720G>A | ||
| NM_020546.3:c.1933G>A MANE Select | NP_065433.2:p.Val645Ile |