Linked Data
ClinVar Variation Id:
43755
ClinVar RCV Id:
RCV000036712
RCV000254346
RCV000276843
RCV000769775
RCV001093806
RCV001711110
RCV003996263
dbSNP Id:
rs116098815
ExAC:
1:237659895 A / G
gnomAD v2:
1-237659895-A-G
gnomAD v3:
1-237496595-A-G
gnomAD v4:
1-237496595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237496595A>G , CM000663.2:g.237496595A>G | GRCh38 |
| NC_000001.10:g.237659895A>G , CM000663.1:g.237659895A>G | GRCh37 |
| NC_000001.9:g.235726518A>G | NCBI36 |
| NG_008799.2:g.459194A>G | |
| NG_008799.3:g.459412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.2046A>G | ENSP00000499659.2:p.Thr682= | |
| ENST00000659194.3:c.2046A>G | ENSP00000499653.3:p.Thr682= | |
| ENST00000660292.2:c.2046A>G | ENSP00000499787.2:p.Thr682= | |
| ENST00000366574.7:c.2046A>G MANE Select | ENSP00000355533.2:p.Thr682= | |
| ENST00000360064.7:c.1998A>G | ENSP00000353174.7:p.Thr666= | |
| ENST00000366574.6:c.2046A>G | ENSP00000355533.2:p.Thr682= | |
| NM_001035.2:c.2046A>G | NP_001026.2:p.Thr682= | |
| XM_006711802.2:c.2046A>G | XP_006711865.1:p.Thr682= | |
| XM_006711803.2:c.2046A>G | XP_006711866.1:p.Thr682= | |
| XM_006711804.2:c.2046A>G | XP_006711867.1:p.Thr682= | |
| XM_006711805.2:c.2046A>G | XP_006711868.1:p.Thr682= | |
| XM_006711806.2:c.2046A>G | XP_006711869.1:p.Thr682= | |
| XM_006711807.2:c.2046A>G | XP_006711870.1:p.Thr682= | |
| XM_006711808.2:c.2046A>G | XP_006711871.1:p.Thr682= | |
| XM_006711809.2:c.2046A>G | XP_006711872.1:p.Thr682= | |
| XM_006711810.2:c.2046A>G | XP_006711873.1:p.Thr682= | |
| XR_949152.1:n.2327A>G | ||
| XM_006711802.3:c.2046A>G | XP_006711865.1:p.Thr682= | |
| XM_006711803.3:c.2046A>G | XP_006711866.1:p.Thr682= | |
| XM_006711804.3:c.2046A>G | XP_006711867.1:p.Thr682= | |
| XM_006711805.3:c.2046A>G | XP_006711868.1:p.Thr682= | |
| XM_006711806.3:c.2046A>G | XP_006711869.1:p.Thr682= | |
| XM_006711807.3:c.2046A>G | XP_006711870.1:p.Thr682= | |
| XM_006711808.3:c.2046A>G | XP_006711871.1:p.Thr682= | |
| XM_006711810.3:c.2046A>G | XP_006711873.1:p.Thr682= | |
| XM_017002028.1:c.2025A>G | XP_016857517.1:p.Thr675= | |
| XR_002957299.1:n.2360A>G | ||
| XR_949152.2:n.2360A>G | ||
| NM_001035.3:c.2046A>G MANE Select | NP_001026.2:p.Thr682= |