Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008411C>A , CM000672.2:g.72008411C>A | GRCh38 |
| NC_000010.10:g.73768169C>A , CM000672.1:g.73768169C>A | GRCh37 |
| NC_000010.9:g.73438175C>A | NCBI36 |
| NG_012635.1:g.49050C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004273.5:c.1380C>A MANE Select | NP_004264.2:p.Ala460= |
| ENST00000373115.5:c.1380C>A MANE Select | ENSP00000362207.4:p.Ala460= |
| NM_004273.4:c.1380C>A | NP_004264.2:p.Ala460= |
| ENST00000373115.4:c.1380C>A | ENSP00000362207.4:p.Ala460= |
| XM_006718075.2:c.1380C>A | XP_006718138.1:p.Ala460= |
| XM_006718075.4:c.1380C>A | XP_006718138.1:p.Ala460= |
| XM_011540369.1:c.1380C>A | XP_011538671.1:p.Ala460= |
| XM_011540369.2:c.1380C>A | XP_011538671.1:p.Ala460= |