Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100643278C>A , CM000669.2:g.100643278C>A | GRCh38 |
| NC_000007.13:g.100240901C>A , CM000669.1:g.100240901C>A | GRCh37 |
| NC_000007.12:g.100078837C>A | NCBI36 |
| NG_007989.1:g.3273G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016188.5:c.1249G>T MANE Select | NP_057272.1:p.Gly417Trp |
| ENST00000160382.10:c.1249G>T MANE Select | ENSP00000160382.5:p.Gly417Trp |
| NM_016188.4:c.1249G>T | NP_057272.1:p.Gly417Trp |
| NR_134539.1:n.1373G>T | |
| NR_134539.2:n.1360G>T | |
| ENST00000160382.9:c.1249G>T | ENSP00000160382.5:p.Gly417Trp |
| ENST00000487125.1:n.811G>T | |
| XR_927476.1:n.1373G>T |