Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103455175T>C , CM000672.2:g.103455175T>C | GRCh38 |
| NC_000010.10:g.105214932T>C , CM000672.1:g.105214932T>C | GRCh37 |
| NC_000010.9:g.105204922T>C | NCBI36 |
| NG_016855.1:g.8717A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001412.4:c.*87A>G MANE Select | NP_001001412.3:n.*87A>G |
| ENST00000329905.6:c.*87A>G MANE Select | ENSP00000329926.6:n.*87A>G |
| NM_001001412.3:c.*87A>G | NP_001001412.3:n.*87A>G |
| ENST00000329905.5:c.*87A>G | ENSP00000329926.5:n.*87A>G |