Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103546268T>G , CM000663.2:g.103546268T>G | GRCh38 |
| NC_000001.10:g.104088890T>G , CM000663.1:g.104088890T>G | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.1228T>G MANE Select | ENSP00000391432.1:p.Phe410Val | |
| ENST00000423855.6:c.1228T>G | ENSP00000391432.1:p.Phe410Val | |
| ENST00000524631.5:c.1225T>G | ENSP00000437278.1:p.Phe409Val | |
| ENST00000524641.1:c.414T>G | ||
| ENST00000533099.5:c.1228T>G | ENSP00000432886.1:p.Phe410Val | |
| ENST00000533834.1:n.1700T>G | ||
| NM_017619.3:c.1228T>G | NP_060089.1:p.Phe410Val | |
| NM_017619.4:c.1228T>G MANE Select | NP_060089.1:p.Phe410Val |