Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371287T>G , CM000680.2:g.60371287T>G | GRCh38 |
| NC_000018.9:g.58038520T>G , CM000680.1:g.58038520T>G | GRCh37 |
| NC_000018.8:g.56189500T>G | NCBI36 |
| NG_016441.1:g.6482A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.*64A>C MANE Select | ENSP00000299766.3:n.*64A>C | |
| ENST00000299766.4:c.*64A>C | ENSP00000299766.3:n.*64A>C | |
| NM_005912.3:c.*64A>C MANE Select | NP_005903.2:n.*64A>C |