Linked Data
ClinVar Variation Id:
3127998
ClinVar RCV Id:
RCV004417831
dbSNP Id:
rs756353413
ExAC:
19:45411089 A / G
gnomAD v2:
19-45411089-A-G
gnomAD v4:
19-44907832-A-G
COSMIC:
COSM3960197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44907832A>G , CM000681.2:g.44907832A>G | GRCh38 |
| NC_000019.9:g.45411089A>G , CM000681.1:g.45411089A>G | GRCh37 |
| NC_000019.8:g.50102929A>G | NCBI36 |
| NG_007084.2:g.7051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.116A>G MANE Select | ENSP00000252486.3:p.Gln39Arg | |
| ENST00000252486.8:c.116A>G | ENSP00000252486.3:p.Gln39Arg | |
| ENST00000425718.1:c.116A>G | ENSP00000410423.1:p.Gln39Arg | |
| ENST00000434152.5:c.194A>G | ENSP00000413653.2:p.Gln65Arg | |
| ENST00000446996.5:c.116A>G | ENSP00000413135.1:p.Gln39Arg | |
| NM_000041.3:c.116A>G | NP_000032.1:p.Gln39Arg | |
| NM_001302688.1:c.194A>G | NP_001289617.1:p.Gln65Arg | |
| NM_001302689.1:c.116A>G | NP_001289618.1:p.Gln39Arg | |
| NM_001302690.1:c.116A>G | NP_001289619.1:p.Gln39Arg | |
| NM_001302691.1:c.116A>G | NP_001289620.1:p.Gln39Arg | |
| NM_000041.4:c.116A>G MANE Select | NP_000032.1:p.Gln39Arg | |
| NM_001302688.2:c.194A>G | NP_001289617.1:p.Gln65Arg | |
| NM_001302689.2:c.116A>G | NP_001289618.1:p.Gln39Arg | |
| NM_001302691.2:c.116A>G | NP_001289620.1:p.Gln39Arg | |
| NM_001302690.2:c.116A>G | NP_001289619.1:p.Gln39Arg |