Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103624205T>G , CM000663.2:g.103624205T>G | GRCh38 |
| NC_000001.10:g.104166827T>G , CM000663.1:g.104166827T>G | GRCh37 |
| NC_000001.9:g.103968350T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000699.4:c.1330T>G MANE Select | NP_000690.1:p.Phe444Val |
| ENST00000414303.7:c.1330T>G MANE Select | ENSP00000397582.2:p.Phe444Val |
| NM_000699.3:c.1330T>G | NP_000690.1:p.Phe444Val |
| ENST00000414303.6:c.1330T>G | ENSP00000397582.2:p.Phe444Val |
| ENST00000497748.1:n.467T>G | |
| ENST00000622339.4:c.1330T>G | ENSP00000481450.1:p.Phe444Val |