Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101304275A>C , CM000665.2:g.101304275A>C | GRCh38 |
| NC_000003.11:g.101023119A>C , CM000665.1:g.101023119A>C | GRCh37 |
| NC_000003.10:g.102505809A>C | NCBI36 |
| NG_028284.1:g.21301T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.372T>G MANE Select | ENSP00000193391.6:p.Phe124Leu | |
| ENST00000193391.7:c.372T>G | ENSP00000193391.6:p.Phe124Leu | |
| NM_016247.3:c.372T>G | NP_057331.2:p.Phe124Leu | |
| XM_011512871.1:c.78T>G | XP_011511173.1:p.Phe26Leu | |
| XM_011512872.1:c.-40T>G | XP_011511174.1:n.-40T>G | |
| NM_016247.4:c.372T>G MANE Select | NP_057331.2:p.Phe124Leu |