Linked Data
ClinVar Variation Id:
1424840
ClinVar RCV Id:
RCV001924074
dbSNP Id:
rs748921342
ExAC:
2:73799991 T / G
gnomAD v2:
2-73799991-T-G
gnomAD v4:
2-73572864-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572864T>G , CM000664.2:g.73572864T>G | GRCh38 |
| NC_000002.11:g.73799991T>G , CM000664.1:g.73799991T>G | GRCh37 |
| NC_000002.10:g.73653499T>G | NCBI36 |
| NG_011690.1:g.192112T>G , LRG_741:g.192112T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10606T>G | ENSP00000507671.1:p.Trp3536Gly | |
| ENST00000682801.1:c.10606T>G | ENSP00000507862.1:p.Trp3536Gly | |
| ENST00000682859.1:c.10606T>G | ENSP00000508222.1:p.Trp3536Gly | |
| ENST00000683791.1:c.3692T>G | ||
| ENST00000684460.1:c.7887T>G | ||
| ENST00000684548.1:c.10606T>G | ENSP00000507421.1:p.Trp3536Gly | |
| ENST00000684590.1:c.5053T>G | ENSP00000507376.1:p.Trp1685Gly | |
| ENST00000684656.1:c.7932T>G | ||
| ENST00000613296.6:c.10987T>G MANE Select | ENSP00000482968.1:p.Trp3663Gly | |
| ENST00000651057.1:c.1141T>G | ENSP00000498504.1:p.Trp381Gly | |
| ENST00000651434.1:c.2343T>G | ||
| ENST00000651750.1:c.375T>G | ||
| ENST00000652487.1:c.2084T>G | ||
| ENST00000423048.5:c.4478T>G | ENSP00000399833.1:n.4478T>G | |
| ENST00000484298.5:c.10861T>G | ENSP00000478155.1:p.Trp3621Gly | |
| ENST00000613296.4:c.10987T>G | ENSP00000482968.1:p.Trp3663Gly | |
| ENST00000614410.4:c.10987T>G | ENSP00000479094.1:p.Trp3663Gly | |
| ENST00000620466.4:n.4790T>G | ||
| NM_015120.4:c.10990T>G , LRG_741t1:c.10990T>G | NP_055935.4:p.Trp3664Gly | |
| NM_001378454.1:c.10987T>G MANE Select | NP_001365383.1:p.Trp3663Gly |