Linked Data
ClinVar Variation Id:
55344
ClinVar RCV Id:
RCV000077591
RCV000236376
RCV000131820
RCV000496750
RCV000769711
RCV001353600
RCV001554289
dbSNP Id:
rs80358086
ExAC:
17:41222939 A / C
gnomAD v2:
17-41222939-A-C
PubMed:
PMID:11179017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070922A>C , CM000679.2:g.43070922A>C | GRCh38 |
| NC_000017.10:g.41222939A>C , CM000679.1:g.41222939A>C | GRCh37 |
| NC_000017.9:g.38476465A>C | NCBI36 |
| NG_005905.2:g.147062T>G , LRG_292:g.147062T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4983+6T>G | ENSP00000417241.2:n.4983+6T>G | |
| ENST00000470026.6:c.4986+6T>G | ENSP00000419274.2:n.4986+6T>G | |
| ENST00000473961.6:c.4860+6T>G | ENSP00000420201.2:n.4860+6T>G | |
| ENST00000476777.6:c.4980+6T>G | ENSP00000417554.2:n.4980+6T>G | |
| ENST00000477152.6:c.4908+6T>G | ENSP00000419988.2:n.4908+6T>G | |
| ENST00000478531.6:c.1674+6T>G | ENSP00000420412.2:n.1674+6T>G | |
| ENST00000489037.2:c.4908+6T>G | ENSP00000420781.2:n.4908+6T>G | |
| ENST00000493919.6:c.1536+6T>G | ENSP00000418819.2:n.1536+6T>G | |
| ENST00000494123.6:c.4986+6T>G | ENSP00000419103.2:n.4986+6T>G | |
| ENST00000497488.2:c.4098+6T>G | ENSP00000418986.2:n.4098+6T>G | |
| ENST00000618469.2:c.4986+6T>G | ENSP00000478114.2:n.4986+6T>G | |
| ENST00000634433.2:c.4863+6T>G | ENSP00000489431.2:n.4863+6T>G | |
| ENST00000644379.2:c.5052+6T>G | ENSP00000496570.2:n.5052+6T>G | |
| ENST00000644555.2:c.1536+6T>G | ENSP00000494614.2:n.1536+6T>G | |
| ENST00000652672.2:c.4845+6T>G | ENSP00000498906.2:n.4845+6T>G | |
| ENST00000484087.6:c.1548+6T>G | ENSP00000419481.2:n.1548+6T>G | |
| ENST00000700182.1:c.1599T>G | ENSP00000514849.1:p.Ser533Arg | |
| ENST00000357654.9:c.4986+6T>G MANE Select | ENSP00000350283.3:n.4986+6T>G | |
| ENST00000471181.7:c.5049+6T>G | ENSP00000418960.2:n.5049+6T>G | |
| ENST00000644379.1:c.1373+6T>G | ||
| ENST00000352993.7:c.1560+6T>G | ENSP00000312236.5:n.1560+6T>G | |
| ENST00000357654.7:c.4986+6T>G | ENSP00000350283.3:n.4986+6T>G | |
| ENST00000461221.5:c.*4769+6T>G | ENSP00000418548.1:n.*4769+6T>G | |
| ENST00000468300.5:c.1674+6T>G | ENSP00000417148.1:n.1674+6T>G | |
| ENST00000471181.6:c.5049+6T>G | ENSP00000418960.2:n.5049+6T>G | |
| ENST00000472490.1:n.139+6T>G | ||
| ENST00000478531.5:c.1674+6T>G | ENSP00000420412.1:n.1674+6T>G | |
| ENST00000484087.5:c.1299+6T>G | ENSP00000419481.1:n.1299+6T>G | |
| ENST00000491747.6:c.1674+6T>G | ENSP00000420705.2:n.1674+6T>G | |
| ENST00000493795.5:c.4845+6T>G | ENSP00000418775.1:n.4845+6T>G | |
| ENST00000493919.5:c.1536+6T>G | ENSP00000418819.1:n.1536+6T>G | |
| ENST00000586385.5:c.5-6971T>G | ENSP00000465818.1:n.5-6971T>G | |
| ENST00000591534.5:c.459+6T>G | ENSP00000467329.1:n.459+6T>G | |
| ENST00000591849.5:c.-98-20732T>G | ENSP00000465347.1:n.-98-20732T>G | |
| NM_007294.3:c.4986+6T>G , LRG_292t1:c.4986+6T>G | NP_009225.1:n.4986+6T>G | |
| NM_007297.3:c.4845+6T>G | NP_009228.2:n.4845+6T>G | |
| NM_007298.3:c.1674+6T>G | NP_009229.2:n.1674+6T>G | |
| NM_007299.3:c.1674+6T>G | NP_009230.2:n.1674+6T>G | |
| NM_007300.3:c.5049+6T>G | NP_009231.2:n.5049+6T>G | |
| NR_027676.1:n.5122+6T>G | ||
| NM_007294.4:c.4986+6T>G MANE Select | NP_009225.1:n.4986+6T>G | |
| NM_007297.4:c.4845+6T>G | NP_009228.2:n.4845+6T>G | |
| NM_007299.4:c.1674+6T>G | NP_009230.2:n.1674+6T>G | |
| NM_007300.4:c.5049+6T>G | NP_009231.2:n.5049+6T>G | |
| NR_027676.2:n.5163+6T>G |