Linked Data
ClinVar Variation Id:
3005479
ClinVar RCV Id:
RCV003868606
dbSNP Id:
rs1386476129
gnomAD v2:
2-73800308-A-G
gnomAD v4:
2-73573181-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573181A>G , CM000664.2:g.73573181A>G | GRCh38 |
| NC_000002.11:g.73800308A>G , CM000664.1:g.73800308A>G | GRCh37 |
| NC_000002.10:g.73653816A>G | NCBI36 |
| NG_011690.1:g.192429A>G , LRG_741:g.192429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10923A>G | ENSP00000507671.1:p.Gln3641= | |
| ENST00000682801.1:c.10923A>G | ENSP00000507862.1:p.Gln3641= | |
| ENST00000682859.1:c.10923A>G | ENSP00000508222.1:p.Gln3641= | |
| ENST00000683791.1:c.4009A>G | ||
| ENST00000684460.1:c.8204A>G | ||
| ENST00000684548.1:c.10923A>G | ENSP00000507421.1:p.Gln3641= | |
| ENST00000684590.1:c.5370A>G | ENSP00000507376.1:p.Gln1790= | |
| ENST00000684656.1:c.8249A>G | ||
| ENST00000613296.6:c.11304A>G MANE Select | ENSP00000482968.1:p.Gln3768= | |
| ENST00000651057.1:c.1458A>G | ENSP00000498504.1:p.Gln486= | |
| ENST00000651434.1:c.2660A>G | ||
| ENST00000651750.1:c.692A>G | ||
| ENST00000652487.1:c.2401A>G | ||
| ENST00000423048.5:c.4795A>G | ENSP00000399833.1:n.4795A>G | |
| ENST00000484298.5:c.11178A>G | ENSP00000478155.1:p.Gln3726= | |
| ENST00000613296.4:c.11304A>G | ENSP00000482968.1:p.Gln3768= | |
| ENST00000614410.4:c.11304A>G | ENSP00000479094.1:p.Gln3768= | |
| ENST00000620466.4:n.5107A>G | ||
| NM_015120.4:c.11307A>G , LRG_741t1:c.11307A>G | NP_055935.4:p.Gln3769= | |
| NM_001378454.1:c.11304A>G MANE Select | NP_001365383.1:p.Gln3768= |