Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72009228C>A , CM000672.2:g.72009228C>A | GRCh38 |
| NC_000010.10:g.73768986C>A , CM000672.1:g.73768986C>A | GRCh37 |
| NC_000010.9:g.73438992C>A | NCBI36 |
| NG_012635.1:g.49867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.*757C>A MANE Select | ENSP00000362207.4:n.*757C>A | |
| ENST00000373115.4:c.*757C>A | ENSP00000362207.4:n.*757C>A | |
| NM_004273.4:c.*757C>A | NP_004264.2:n.*757C>A | |
| XM_006718075.2:c.*757C>A | XP_006718138.1:n.*757C>A | |
| XM_011540369.1:c.*757C>A | XP_011538671.1:n.*757C>A | |
| XM_006718075.4:c.*757C>A | XP_006718138.1:n.*757C>A | |
| XM_011540369.2:c.*757C>A | XP_011538671.1:n.*757C>A | |
| NM_004273.5:c.*757C>A MANE Select | NP_004264.2:n.*757C>A |