Linked Data
ClinVar Variation Id:
1149884
dbSNP Id:
rs369971378
gnomAD v2:
1-237947309-C-T
gnomAD v3:
1-237784009-C-T
gnomAD v4:
1-237784009-C-T
COSMIC:
COSM906260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784009C>T , CM000663.2:g.237784009C>T | GRCh38 |
| NC_000001.10:g.237947309C>T , CM000663.1:g.237947309C>T | GRCh37 |
| NC_000001.9:g.236013932C>T | NCBI36 |
| NG_008799.2:g.746608C>T | |
| NG_008799.3:g.746826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3389C>T | ENSP00000499659.2:n.*3389C>T | |
| ENST00000659194.3:c.12285C>T | ENSP00000499653.3:p.Ala4095= | |
| ENST00000660292.2:c.12318C>T | ENSP00000499787.2:p.Ala4106= | |
| ENST00000659194.2:c.4474C>T | ||
| ENST00000366574.7:c.12297C>T MANE Select | ENSP00000355533.2:p.Ala4099= | |
| ENST00000659194.1:c.4474C>T | ||
| ENST00000660292.1:c.2350C>T | ||
| ENST00000360064.7:c.12249C>T | ENSP00000353174.7:p.Ala4083= | |
| ENST00000366574.6:c.12297C>T | ENSP00000355533.2:p.Ala4099= | |
| ENST00000609119.1:n.3492C>T | ||
| NM_001035.2:c.12297C>T | NP_001026.2:p.Ala4099= | |
| XM_006711802.2:c.12351C>T | XP_006711865.1:p.Ala4117= | |
| XM_006711803.2:c.12348C>T | XP_006711866.1:p.Ala4116= | |
| XM_006711804.2:c.12327C>T | XP_006711867.1:p.Ala4109= | |
| XM_006711805.2:c.12321C>T | XP_006711868.1:p.Ala4107= | |
| XM_006711806.2:c.12315C>T | XP_006711869.1:p.Ala4105= | |
| XM_006711807.2:c.12291C>T | XP_006711870.1:p.Ala4097= | |
| XM_006711808.2:c.12114C>T | XP_006711871.1:p.Ala4038= | |
| XM_006711810.2:c.12258C>T | XP_006711873.1:p.Ala4086= | |
| XM_006711802.3:c.12351C>T | XP_006711865.1:p.Ala4117= | |
| XM_006711803.3:c.12348C>T | XP_006711866.1:p.Ala4116= | |
| XM_006711804.3:c.12327C>T | XP_006711867.1:p.Ala4109= | |
| XM_006711805.3:c.12321C>T | XP_006711868.1:p.Ala4107= | |
| XM_006711806.3:c.12315C>T | XP_006711869.1:p.Ala4105= | |
| XM_006711807.3:c.12291C>T | XP_006711870.1:p.Ala4097= | |
| XM_006711808.3:c.12114C>T | XP_006711871.1:p.Ala4038= | |
| XM_006711810.3:c.12258C>T | XP_006711873.1:p.Ala4086= | |
| XM_017002028.1:c.12330C>T | XP_016857517.1:p.Ala4110= | |
| NM_001035.3:c.12297C>T MANE Select | NP_001026.2:p.Ala4099= |