Linked Data
ClinVar Variation Id:
36750
ClinVar RCV Id:
RCV001811220
dbSNP Id:
rs34967813
ExAC:
1:237841390 A / G
gnomAD v2:
1-237841390-A-G
gnomAD v3:
1-237678090-A-G
gnomAD v4:
1-237678090-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237678090A>G , CM000663.2:g.237678090A>G | GRCh38 |
| NC_000001.10:g.237841390A>G , CM000663.1:g.237841390A>G | GRCh37 |
| NC_000001.9:g.235908013A>G | NCBI36 |
| NG_008799.2:g.640689A>G | |
| NG_008799.3:g.640907A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.8831-2366A>G | ENSP00000499659.2:n.8831-2366A>G | |
| ENST00000659194.3:c.8873A>G | ENSP00000499653.3:p.Gln2958Arg | |
| ENST00000660292.2:c.8873A>G | ENSP00000499787.2:p.Gln2958Arg | |
| ENST00000659194.2:c.1062A>G | ||
| ENST00000366574.7:c.8873A>G MANE Select | ENSP00000355533.2:p.Gln2958Arg | |
| ENST00000659194.1:c.1062A>G | ||
| ENST00000360064.7:c.8825A>G | ENSP00000353174.7:p.Gln2942Arg | |
| ENST00000366574.6:c.8873A>G | ENSP00000355533.2:p.Gln2958Arg | |
| ENST00000609119.1:n.84-2366A>G | ||
| NM_001035.2:c.8873A>G | NP_001026.2:p.Gln2958Arg | |
| XM_006711802.2:c.8903A>G | XP_006711865.1:p.Gln2968Arg | |
| XM_006711803.2:c.8900A>G | XP_006711866.1:p.Gln2967Arg | |
| XM_006711804.2:c.8903A>G | XP_006711867.1:p.Gln2968Arg | |
| XM_006711805.2:c.8873A>G | XP_006711868.1:p.Gln2958Arg | |
| XM_006711806.2:c.8903A>G | XP_006711869.1:p.Gln2968Arg | |
| XM_006711807.2:c.8903A>G | XP_006711870.1:p.Gln2968Arg | |
| XM_006711808.2:c.8860+3244A>G | XP_006711871.1:n.8860+3244A>G | |
| XM_006711810.2:c.8870A>G | XP_006711873.1:p.Gln2957Arg | |
| XR_949152.1:n.9184A>G | ||
| XM_006711802.3:c.8903A>G | XP_006711865.1:p.Gln2968Arg | |
| XM_006711803.3:c.8900A>G | XP_006711866.1:p.Gln2967Arg | |
| XM_006711804.3:c.8903A>G | XP_006711867.1:p.Gln2968Arg | |
| XM_006711805.3:c.8873A>G | XP_006711868.1:p.Gln2958Arg | |
| XM_006711806.3:c.8903A>G | XP_006711869.1:p.Gln2968Arg | |
| XM_006711807.3:c.8903A>G | XP_006711870.1:p.Gln2968Arg | |
| XM_006711808.3:c.8860+3244A>G | XP_006711871.1:n.8860+3244A>G | |
| XM_006711810.3:c.8870A>G | XP_006711873.1:p.Gln2957Arg | |
| XM_017002028.1:c.8882A>G | XP_016857517.1:p.Gln2961Arg | |
| XR_949152.2:n.9217A>G | ||
| NM_001035.3:c.8873A>G MANE Select | NP_001026.2:p.Gln2958Arg |