Linked Data
ClinVar Variation Id:
201183
dbSNP Id:
rs377293019
ExAC:
1:237947504 G / A
gnomAD v2:
1-237947504-G-A
gnomAD v3:
1-237784204-G-A
gnomAD v4:
1-237784204-G-A
COSMIC:
COSM1241695
PubMed:
PMID:18752142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784204G>A , CM000663.2:g.237784204G>A | GRCh38 |
| NC_000001.10:g.237947504G>A , CM000663.1:g.237947504G>A | GRCh37 |
| NC_000001.9:g.236014127G>A | NCBI36 |
| NG_008799.2:g.746803G>A | |
| NG_008799.3:g.747021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3584G>A | ENSP00000499659.2:n.*3584G>A | |
| ENST00000659194.3:c.12480G>A | ENSP00000499653.3:p.Gln4160= | |
| ENST00000660292.2:c.12513G>A | ENSP00000499787.2:p.Gln4171= | |
| ENST00000659194.2:c.4669G>A | ||
| ENST00000366574.7:c.12492G>A MANE Select | ENSP00000355533.2:p.Gln4164= | |
| ENST00000659194.1:c.4669G>A | ||
| ENST00000660292.1:c.2545G>A | ||
| ENST00000360064.7:c.12444G>A | ENSP00000353174.7:p.Gln4148= | |
| ENST00000366574.6:c.12492G>A | ENSP00000355533.2:p.Gln4164= | |
| ENST00000609119.1:n.3687G>A | ||
| NM_001035.2:c.12492G>A | NP_001026.2:p.Gln4164= | |
| XM_006711802.2:c.12546G>A | XP_006711865.1:p.Gln4182= | |
| XM_006711803.2:c.12543G>A | XP_006711866.1:p.Gln4181= | |
| XM_006711804.2:c.12522G>A | XP_006711867.1:p.Gln4174= | |
| XM_006711805.2:c.12516G>A | XP_006711868.1:p.Gln4172= | |
| XM_006711806.2:c.12510G>A | XP_006711869.1:p.Gln4170= | |
| XM_006711807.2:c.12486G>A | XP_006711870.1:p.Gln4162= | |
| XM_006711808.2:c.12309G>A | XP_006711871.1:p.Gln4103= | |
| XM_006711810.2:c.12453G>A | XP_006711873.1:p.Gln4151= | |
| XM_006711802.3:c.12546G>A | XP_006711865.1:p.Gln4182= | |
| XM_006711803.3:c.12543G>A | XP_006711866.1:p.Gln4181= | |
| XM_006711804.3:c.12522G>A | XP_006711867.1:p.Gln4174= | |
| XM_006711805.3:c.12516G>A | XP_006711868.1:p.Gln4172= | |
| XM_006711806.3:c.12510G>A | XP_006711869.1:p.Gln4170= | |
| XM_006711807.3:c.12486G>A | XP_006711870.1:p.Gln4162= | |
| XM_006711808.3:c.12309G>A | XP_006711871.1:p.Gln4103= | |
| XM_006711810.3:c.12453G>A | XP_006711873.1:p.Gln4151= | |
| XM_017002028.1:c.12525G>A | XP_016857517.1:p.Gln4175= | |
| NM_001035.3:c.12492G>A MANE Select | NP_001026.2:p.Gln4164= |