Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25232874A>G , CM000664.2:g.25232874A>G | GRCh38 |
| NC_000002.11:g.25455743A>G , CM000664.1:g.25455743A>G | GRCh37 |
| NC_000002.10:g.25309247A>G | NCBI36 |
| NG_029465.2:g.114717T>C , LRG_459:g.114717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321117.10:c.*1405T>C MANE Select | ENSP00000324375.5:n.*1405T>C | |
| ENST00000264709.7:c.*1405T>C | ENSP00000264709.3:n.*1405T>C | |
| NR_135490.2:n.4574T>C | ||
| NM_022552.5:c.*1405T>C MANE Select | NP_072046.2:n.*1405T>C |