Linked Data
ClinVar Variation Id:
55480
ClinVar RCV Id:
RCV000048882
RCV000074600
RCV000077611
RCV000162884
RCV000414226
RCV000786961
RCV001270975
RCV000763399
dbSNP Id:
rs80357123
gnomAD v2:
17-41209095-G-A
gnomAD v3:
17-43057078-G-A
gnomAD v4:
17-43057078-G-A
PubMed:
PMID:9361038
PMID:11436123
PMID:12142080
PMID:16528604
PMID:17148771
PMID:17453335
PMID:18159056
PMID:18783588
PMID:18821011
PMID:21232165
PMID:21324516
PMID:22434525
PMID:22652532
PMID:23469205
PMID:23536787
PMID:24010542
PMID:24528374
PMID:24884479
PMID:25428789
PMID:25525159
PMID:26287763
PMID:26295337
PMID:26843898
PMID:27393621
PMID:27425403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057078G>A , CM000679.2:g.43057078G>A | GRCh38 |
| NC_000017.10:g.41209095G>A , CM000679.1:g.41209095G>A | GRCh37 |
| NC_000017.9:g.38462621G>A | NCBI36 |
| NG_005905.2:g.160906C>T , LRG_292:g.160906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5248C>T | ENSP00000417241.2:p.Arg1750Ter | |
| ENST00000470026.6:c.5251C>T | ENSP00000419274.2:p.Arg1751Ter | |
| ENST00000473961.6:c.5125C>T | ENSP00000420201.2:p.Arg1709Ter | |
| ENST00000476777.6:c.5245C>T | ENSP00000417554.2:p.Arg1749Ter | |
| ENST00000477152.6:c.5173C>T | ENSP00000419988.2:p.Arg1725Ter | |
| ENST00000478531.6:c.1939C>T | ENSP00000420412.2:p.Arg647Ter | |
| ENST00000489037.2:c.5173C>T | ENSP00000420781.2:p.Arg1725Ter | |
| ENST00000493919.6:c.1801C>T | ENSP00000418819.2:p.Arg601Ter | |
| ENST00000494123.6:c.5251C>T | ENSP00000419103.2:p.Arg1751Ter | |
| ENST00000497488.2:c.4363C>T | ENSP00000418986.2:p.Arg1455Ter | |
| ENST00000618469.2:c.5251C>T | ENSP00000478114.2:p.Arg1751Ter | |
| ENST00000634433.2:c.5128C>T | ENSP00000489431.2:p.Arg1710Ter | |
| ENST00000644379.2:c.5317C>T | ENSP00000496570.2:p.Arg1773Ter | |
| ENST00000644555.2:c.1801C>T | ENSP00000494614.2:p.Arg601Ter | |
| ENST00000652672.2:c.5110C>T | ENSP00000498906.2:p.Arg1704Ter | |
| ENST00000484087.6:c.1813C>T | ENSP00000419481.2:p.Arg605Ter | |
| ENST00000357654.9:c.5251C>T MANE Select | ENSP00000350283.3:p.Arg1751Ter | |
| ENST00000471181.7:c.5314C>T | ENSP00000418960.2:p.Arg1772Ter | |
| ENST00000644379.1:c.1638C>T | ||
| ENST00000352993.7:c.1825C>T | ENSP00000312236.5:p.Arg609Ter | |
| ENST00000357654.7:c.5251C>T | ENSP00000350283.3:p.Arg1751Ter | |
| ENST00000461221.5:c.*5034C>T | ENSP00000418548.1:n.*5034C>T | |
| ENST00000468300.5:c.1939C>T | ENSP00000417148.1:p.Arg647Ter | |
| ENST00000471181.6:c.5314C>T | ENSP00000418960.2:p.Arg1772Ter | |
| ENST00000491747.6:c.1939C>T | ENSP00000420705.2:p.Arg647Ter | |
| ENST00000493795.5:c.5110C>T | ENSP00000418775.1:p.Arg1704Ter | |
| ENST00000586385.5:c.181C>T | ENSP00000465818.1:p.Arg61Ter | |
| ENST00000591534.5:c.724C>T | ENSP00000467329.1:p.Arg242Ter | |
| ENST00000591849.5:c.-98-6888C>T | ENSP00000465347.1:n.-98-6888C>T | |
| NM_007294.3:c.5251C>T , LRG_292t1:c.5251C>T | NP_009225.1:p.Arg1751Ter | |
| NM_007297.3:c.5110C>T | NP_009228.2:p.Arg1704Ter | |
| NM_007298.3:c.1939C>T | NP_009229.2:p.Arg647Ter | |
| NM_007299.3:c.1939C>T | NP_009230.2:p.Arg647Ter | |
| NM_007300.3:c.5314C>T | NP_009231.2:p.Arg1772Ter | |
| NR_027676.1:n.5387C>T | ||
| NM_007294.4:c.5251C>T MANE Select | NP_009225.1:p.Arg1751Ter | |
| NM_007297.4:c.5110C>T | NP_009228.2:p.Arg1704Ter | |
| NM_007299.4:c.1939C>T | NP_009230.2:p.Arg647Ter | |
| NM_007300.4:c.5314C>T | NP_009231.2:p.Arg1772Ter | |
| NR_027676.2:n.5428C>T |