Linked Data
ClinVar Variation Id:
142639
dbSNP Id:
rs587782606
ExAC:
17:41228628 A / G
gnomAD v2:
17-41228628-A-G
gnomAD v3:
17-43076611-A-G
gnomAD v4:
17-43076611-A-G
PubMed:
PMID:26306726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076611A>G , CM000679.2:g.43076611A>G | GRCh38 |
| NC_000017.10:g.41228628A>G , CM000679.1:g.41228628A>G | GRCh37 |
| NC_000017.9:g.38482154A>G | NCBI36 |
| NG_005905.2:g.141373T>C , LRG_292:g.141373T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4358T>C | ENSP00000417241.2:p.Val1453Ala | |
| ENST00000470026.6:c.4361T>C | ENSP00000419274.2:p.Val1454Ala | |
| ENST00000473961.6:c.4235T>C | ENSP00000420201.2:p.Val1412Ala | |
| ENST00000476777.6:c.4355T>C | ENSP00000417554.2:p.Val1452Ala | |
| ENST00000477152.6:c.4283T>C | ENSP00000419988.2:p.Val1428Ala | |
| ENST00000478531.6:c.1049T>C | ENSP00000420412.2:p.Val350Ala | |
| ENST00000489037.2:c.4283T>C | ENSP00000420781.2:p.Val1428Ala | |
| ENST00000493919.6:c.911T>C | ENSP00000418819.2:p.Val304Ala | |
| ENST00000494123.6:c.4361T>C | ENSP00000419103.2:p.Val1454Ala | |
| ENST00000497488.2:c.3473T>C | ENSP00000418986.2:p.Val1158Ala | |
| ENST00000618469.2:c.4361T>C | ENSP00000478114.2:p.Val1454Ala | |
| ENST00000634433.2:c.4238T>C | ENSP00000489431.2:p.Val1413Ala | |
| ENST00000644379.2:c.4427T>C | ENSP00000496570.2:p.Val1476Ala | |
| ENST00000644555.2:c.911T>C | ENSP00000494614.2:p.Val304Ala | |
| ENST00000652672.2:c.4220T>C | ENSP00000498906.2:p.Val1407Ala | |
| ENST00000484087.6:c.923T>C | ENSP00000419481.2:p.Val308Ala | |
| ENST00000700182.1:c.968T>C | ENSP00000514849.1:p.Val323Ala | |
| ENST00000357654.9:c.4361T>C MANE Select | ENSP00000350283.3:p.Val1454Ala | |
| ENST00000471181.7:c.4424T>C | ENSP00000418960.2:p.Val1475Ala | |
| ENST00000644379.1:c.748T>C | ||
| ENST00000352993.7:c.935T>C | ENSP00000312236.5:p.Val312Ala | |
| ENST00000357654.7:c.4361T>C | ENSP00000350283.3:p.Val1454Ala | |
| ENST00000461221.5:c.*4144T>C | ENSP00000418548.1:n.*4144T>C | |
| ENST00000461574.1:c.652T>C | ||
| ENST00000468300.5:c.1049T>C | ENSP00000417148.1:p.Val350Ala | |
| ENST00000471181.6:c.4424T>C | ENSP00000418960.2:p.Val1475Ala | |
| ENST00000478531.5:c.1049T>C | ENSP00000420412.1:p.Val350Ala | |
| ENST00000484087.5:c.674T>C | ENSP00000419481.1:p.Val225Ala | |
| ENST00000487825.5:c.677T>C | ENSP00000418212.1:p.Val226Ala | |
| ENST00000491747.6:c.1049T>C | ENSP00000420705.2:p.Val350Ala | |
| ENST00000493795.5:c.4220T>C | ENSP00000418775.1:p.Val1407Ala | |
| ENST00000493919.5:c.911T>C | ENSP00000418819.1:p.Val304Ala | |
| ENST00000586385.5:c.5-12660T>C | ENSP00000465818.1:n.5-12660T>C | |
| ENST00000591534.5:c.-43-2090T>C | ENSP00000467329.1:n.-43-2090T>C | |
| ENST00000591849.5:c.-98-26421T>C | ENSP00000465347.1:n.-98-26421T>C | |
| ENST00000621897.1:n.252T>C | ||
| NM_007294.3:c.4361T>C , LRG_292t1:c.4361T>C | NP_009225.1:p.Val1454Ala | |
| NM_007297.3:c.4220T>C | NP_009228.2:p.Val1407Ala | |
| NM_007298.3:c.1049T>C | NP_009229.2:p.Val350Ala | |
| NM_007299.3:c.1049T>C | NP_009230.2:p.Val350Ala | |
| NM_007300.3:c.4424T>C | NP_009231.2:p.Val1475Ala | |
| NR_027676.1:n.4497T>C | ||
| NM_007294.4:c.4361T>C MANE Select | NP_009225.1:p.Val1454Ala | |
| NM_007297.4:c.4220T>C | NP_009228.2:p.Val1407Ala | |
| NM_007299.4:c.1049T>C | NP_009230.2:p.Val350Ala | |
| NM_007300.4:c.4424T>C | NP_009231.2:p.Val1475Ala | |
| NR_027676.2:n.4538T>C |