Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6368944G>A , CM000681.2:g.6368944G>A | GRCh38 |
| NC_000019.9:g.6368955G>A , CM000681.1:g.6368955G>A | GRCh37 |
| NC_000019.8:g.6319955G>A | NCBI36 |
| NG_033887.1:g.12493G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006012.4:c.*234G>A MANE Select | NP_006003.1:n.*234G>A |
| ENST00000245816.11:c.*234G>A MANE Select | ENSP00000245816.3:n.*234G>A |