Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7757573C>A , CM000667.2:g.7757573C>A | GRCh38 |
| NC_000005.9:g.7757686C>A , CM000667.1:g.7757686C>A | GRCh37 |
| NC_000005.8:g.7810686C>A | NCBI36 |
| NG_046913.1:g.366344C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020546.3:c.2081C>A MANE Select | NP_065433.2:p.Ala694Asp |
| ENST00000338316.9:c.2081C>A MANE Select | ENSP00000342952.4:p.Ala694Asp |
| NM_020546.2:c.2081C>A | NP_065433.2:p.Ala694Asp |
| ENST00000338316.8:c.2081C>A | ENSP00000342952.4:p.Ala694Asp |
| ENST00000537121.5:c.2075C>A | ENSP00000444803.2:p.Ala692Asp |
| XM_011513942.1:c.1957-9114C>A | XP_011512244.1:n.1957-9114C>A |
| XM_011513942.2:c.1957-9114C>A | XP_011512244.1:n.1957-9114C>A |
| XR_001741973.1:n.2095C>A | |
| XR_001741974.2:n.2010C>A | |
| XR_427657.2:n.2095C>A |