Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143489446G>A , CM000668.2:g.143489446G>A | GRCh38 |
| NC_000006.11:g.143810583G>A , CM000668.1:g.143810583G>A | GRCh37 |
| NC_000006.10:g.143852276G>A | NCBI36 |
| NG_008459.1:g.43666G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.*220G>A MANE Select | NP_003621.1:n.*220G>A |
| ENST00000367591.5:c.*220G>A MANE Select | ENSP00000356563.4:n.*220G>A |
| NM_003630.2:c.*220G>A | NP_003621.1:n.*220G>A |
| ENST00000367591.4:c.*220G>A | ENSP00000356563.4:n.*220G>A |