Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222847G>A , CM000668.2:g.111222847G>A | GRCh38 |
| NC_000006.11:g.111544050G>A , CM000668.1:g.111544050G>A | GRCh37 |
| NC_000006.10:g.111650743G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*612G>A MANE Select | ENSP00000357844.4:n.*612G>A | |
| ENST00000368850.4:c.*612G>A | ENSP00000357843.1:n.*612G>A | |
| ENST00000368851.9:c.*612G>A | ENSP00000357844.4:n.*612G>A | |
| NM_018593.4:c.*612G>A | NP_061063.2:n.*612G>A | |
| XM_005266818.2:c.*566G>A | XP_005266875.1:n.*566G>A | |
| XM_017010237.1:c.*612G>A | XP_016865726.1:n.*612G>A | |
| XR_001743158.1:n.2442G>A | ||
| NM_018593.5:c.*612G>A MANE Select | NP_061063.2:n.*612G>A |