Linked Data
ClinVar Variation Id:
393381
dbSNP Id:
rs1057524885
gnomAD v2:
2-73829492-A-G
gnomAD v4:
2-73602365-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73602365A>G , CM000664.2:g.73602365A>G | GRCh38 |
| NC_000002.11:g.73829492A>G , CM000664.1:g.73829492A>G | GRCh37 |
| NC_000002.10:g.73683000A>G | NCBI36 |
| NG_011690.1:g.221613A>G , LRG_741:g.221613A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11914A>G | ENSP00000507671.1:p.Arg3972Gly | |
| ENST00000682801.1:c.11347A>G | ENSP00000507862.1:p.Arg3783Gly | |
| ENST00000682859.1:c.11914A>G | ENSP00000508222.1:p.Arg3972Gly | |
| ENST00000683791.1:c.5000A>G | ||
| ENST00000684460.1:c.9195A>G | ||
| ENST00000684548.1:c.11914A>G | ENSP00000507421.1:p.Arg3972Gly | |
| ENST00000684590.1:c.6361A>G | ENSP00000507376.1:p.Arg2121Gly | |
| ENST00000684656.1:c.9379A>G | ||
| ENST00000613296.6:c.12295A>G MANE Select | ENSP00000482968.1:p.Arg4099Gly | |
| ENST00000651057.1:c.2449A>G | ENSP00000498504.1:p.Arg817Gly | |
| ENST00000651434.1:c.3651A>G | ||
| ENST00000651750.1:c.1441A>G | ||
| ENST00000652487.1:c.3466A>G | ||
| ENST00000464408.3:n.470A>G | ||
| ENST00000484298.5:c.12169A>G | ENSP00000478155.1:p.Arg4057Gly | |
| ENST00000613296.4:c.12295A>G | ENSP00000482968.1:p.Arg4099Gly | |
| ENST00000620466.4:n.6098A>G | ||
| NM_015120.4:c.12298A>G , LRG_741t1:c.12298A>G | NP_055935.4:p.Arg4100Gly | |
| NM_001378454.1:c.12295A>G MANE Select | NP_001365383.1:p.Arg4099Gly |