Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732540T>G , CM000670.2:g.42732540T>G | GRCh38 |
| NC_000008.10:g.42587683T>G , CM000670.1:g.42587683T>G | GRCh37 |
| NC_000008.9:g.42706840T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1233T>G MANE Select | ENSP00000289957.2:p.Phe411Leu | |
| ENST00000289957.2:c.1233T>G | ENSP00000289957.2:p.Phe411Leu | |
| NM_000749.3:c.1233T>G | NP_000740.1:p.Phe411Leu | |
| XM_011544390.1:c.846T>G | XP_011542692.1:p.Phe282Leu | |
| NM_000749.4:c.1233T>G | NP_000740.1:p.Phe411Leu | |
| NM_001347717.1:c.1011T>G | NP_001334646.1:p.Phe337Leu | |
| XM_011544390.2:c.846T>G | XP_011542692.1:p.Phe282Leu | |
| NM_000749.5:c.1233T>G MANE Select | NP_000740.1:p.Phe411Leu | |
| NM_001347717.2:c.1011T>G | NP_001334646.1:p.Phe337Leu |