Linked Data
ClinVar Variation Id:
1916791
ClinVar RCV Id:
RCV002625422
dbSNP Id:
rs1812739240
gnomAD v4:
8-31067137-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067137T>G , CM000670.2:g.31067137T>G | GRCh38 |
| NC_000008.10:g.30924653T>G , CM000670.1:g.30924653T>G | GRCh37 |
| NC_000008.9:g.31044195T>G | NCBI36 |
| NG_008870.1:g.38876T>G , LRG_524:g.38876T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.609T>G MANE Select | ENSP00000298139.5:p.Phe203Leu | |
| ENST00000650667.1:c.*223T>G | ENSP00000498593.1:n.*223T>G | |
| ENST00000298139.5:c.609T>G | ENSP00000298139.5:p.Phe203Leu | |
| NM_000553.4:c.609T>G , LRG_524t1:c.609T>G | NP_000544.2:p.Phe203Leu | |
| XM_011544639.1:c.609T>G | XP_011542941.1:p.Phe203Leu | |
| XR_949470.1:n.882T>G | ||
| XR_949471.1:n.882T>G | ||
| XR_949472.1:n.882T>G | ||
| NM_000553.5:c.609T>G | NP_000544.2:p.Phe203Leu | |
| XM_011544639.3:c.609T>G | XP_011542941.1:p.Phe203Leu | |
| XM_024447265.1:c.399T>G | XP_024303033.1:p.Phe133Leu | |
| XR_949470.3:n.910T>G | ||
| XR_949471.3:n.910T>G | ||
| XR_949472.3:n.910T>G | ||
| NM_000553.6:c.609T>G MANE Select | NP_000544.2:p.Phe203Leu |