Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23382532A>C , CM000676.2:g.23382532A>C | GRCh38 |
| NC_000014.8:g.23851741A>C , CM000676.1:g.23851741A>C | GRCh37 |
| NC_000014.7:g.22921581A>C | NCBI36 |
| NG_023444.1:g.30746T>G , LRG_389:g.30746T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.5692T>G MANE Select | ENSP00000386041.3:p.Phe1898Val | |
| ENST00000651452.1:n.919T>G | ||
| ENST00000356287.3:c.5692T>G | ENSP00000348634.3:p.Phe1898Val | |
| ENST00000405093.7:c.5692T>G | ENSP00000386041.3:p.Phe1898Val | |
| NM_002471.3:c.5692T>G , LRG_389t1:c.5692T>G | NP_002462.2:p.Phe1898Val | |
| NM_002471.4:c.5692T>G MANE Select | NP_002462.2:p.Phe1898Val |