Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58491017C>T , CM000670.2:g.58491017C>T | GRCh38 |
| NC_000008.10:g.59403576C>T , CM000670.1:g.59403576C>T | GRCh37 |
| NC_000008.9:g.59566130C>T | NCBI36 |
| NG_007969.1:g.14146G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000780.4:c.*458G>A MANE Select | NP_000771.2:n.*458G>A |
| ENST00000301645.4:c.*458G>A MANE Select | ENSP00000301645.3:n.*458G>A |
| NM_000780.3:c.*458G>A | NP_000771.2:n.*458G>A |
| ENST00000301645.3:c.*458G>A | ENSP00000301645.3:n.*458G>A |