Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143489968A>G , CM000668.2:g.143489968A>G | GRCh38 |
| NC_000006.11:g.143811105A>G , CM000668.1:g.143811105A>G | GRCh37 |
| NC_000006.10:g.143852798A>G | NCBI36 |
| NG_008459.1:g.44188A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.*742A>G MANE Select | NP_003621.1:n.*742A>G |
| ENST00000367591.5:c.*742A>G MANE Select | ENSP00000356563.4:n.*742A>G |
| NM_003630.2:c.*742A>G | NP_003621.1:n.*742A>G |
| ENST00000367591.4:c.*742A>G | ENSP00000356563.4:n.*742A>G |