Linked Data
ClinVar Variation Id:
890247
ClinVar RCV Id:
RCV001124683
dbSNP Id:
rs564262300
ExAC:
17:73518056 C / G
gnomAD v2:
17-73518056-C-G
gnomAD v3:
17-75521975-C-G
gnomAD v4:
17-75521975-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521975C>G , CM000679.2:g.75521975C>G | GRCh38 |
| NC_000017.10:g.73518056C>G , CM000679.1:g.73518056C>G | GRCh37 |
| NC_000017.9:g.71029651C>G | NCBI36 |
| NG_013041.1:g.10448C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.894C>G MANE Select | ENSP00000327487.6:p.Phe298Leu | |
| ENST00000434205.8:c.591C>G | ENSP00000406559.4:p.Phe197Leu | |
| ENST00000545228.3:c.894C>G | ENSP00000438169.3:p.Phe298Leu | |
| ENST00000579449.2:n.693C>G | ||
| ENST00000580013.6:n.1097C>G | ||
| ENST00000679370.1:n.1475C>G | ||
| ENST00000679429.1:c.*352C>G | ENSP00000505403.1:n.*352C>G | |
| ENST00000679443.1:n.963C>G | ||
| ENST00000679782.1:c.894C>G | ENSP00000505995.1:p.Phe298Leu | |
| ENST00000679919.1:n.963C>G | ||
| ENST00000679928.1:c.*505C>G | ENSP00000506071.1:n.*505C>G | |
| ENST00000680528.1:n.919C>G | ||
| ENST00000680999.1:c.894C>G | ENSP00000504984.1:p.Phe298Leu | |
| ENST00000681282.1:c.*140C>G | ENSP00000506339.1:n.*140C>G | |
| ENST00000333213.10:c.894C>G | ENSP00000327487.6:p.Phe298Leu | |
| ENST00000578415.1:c.854C>G | ||
| ENST00000583173.5:c.459-32C>G | ENSP00000463619.1:n.459-32C>G | |
| NM_207346.2:c.894C>G | NP_997229.2:p.Phe298Leu | |
| XM_005257229.2:c.894C>G | XP_005257286.1:p.Phe298Leu | |
| XM_006721821.2:c.591C>G | XP_006721884.1:p.Phe197Leu | |
| XM_011524616.1:c.894C>G | XP_011522918.1:p.Phe298Leu | |
| XM_011524617.1:c.894C>G | XP_011522919.1:p.Phe298Leu | |
| XM_011524618.1:c.894C>G | XP_011522920.1:p.Phe298Leu | |
| XR_243646.2:n.924C>G | ||
| XM_005257229.4:c.894C>G | XP_005257286.1:p.Phe298Leu | |
| XR_243646.4:n.930C>G | ||
| NM_207346.3:c.894C>G MANE Select | NP_997229.2:p.Phe298Leu |