Linked Data
ClinVar Variation Id:
55219
dbSNP Id:
rs80357437
ExAC:
17:41226515 G / T
gnomAD v2:
17-41226515-G-T
gnomAD v4:
17-43074498-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074498G>T , CM000679.2:g.43074498G>T | GRCh38 |
| NC_000017.10:g.41226515G>T , CM000679.1:g.41226515G>T | GRCh37 |
| NC_000017.9:g.38480041G>T | NCBI36 |
| NG_005905.2:g.143486C>A , LRG_292:g.143486C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4505C>A | ENSP00000417241.2:p.Ser1502Ter | |
| ENST00000470026.6:c.4508C>A | ENSP00000419274.2:p.Ser1503Ter | |
| ENST00000473961.6:c.4382C>A | ENSP00000420201.2:p.Ser1461Ter | |
| ENST00000476777.6:c.4502C>A | ENSP00000417554.2:p.Ser1501Ter | |
| ENST00000477152.6:c.4430C>A | ENSP00000419988.2:p.Ser1477Ter | |
| ENST00000478531.6:c.1196C>A | ENSP00000420412.2:p.Ser399Ter | |
| ENST00000489037.2:c.4430C>A | ENSP00000420781.2:p.Ser1477Ter | |
| ENST00000493919.6:c.1058C>A | ENSP00000418819.2:p.Ser353Ter | |
| ENST00000494123.6:c.4508C>A | ENSP00000419103.2:p.Ser1503Ter | |
| ENST00000497488.2:c.3620C>A | ENSP00000418986.2:p.Ser1207Ter | |
| ENST00000618469.2:c.4508C>A | ENSP00000478114.2:p.Ser1503Ter | |
| ENST00000634433.2:c.4385C>A | ENSP00000489431.2:p.Ser1462Ter | |
| ENST00000644379.2:c.4574C>A | ENSP00000496570.2:p.Ser1525Ter | |
| ENST00000644555.2:c.1058C>A | ENSP00000494614.2:p.Ser353Ter | |
| ENST00000652672.2:c.4367C>A | ENSP00000498906.2:p.Ser1456Ter | |
| ENST00000484087.6:c.1070C>A | ENSP00000419481.2:p.Ser357Ter | |
| ENST00000700182.1:c.1115C>A | ENSP00000514849.1:p.Ser372Ter | |
| ENST00000357654.9:c.4508C>A MANE Select | ENSP00000350283.3:p.Ser1503Ter | |
| ENST00000471181.7:c.4571C>A | ENSP00000418960.2:p.Ser1524Ter | |
| ENST00000644379.1:c.895C>A | ||
| ENST00000352993.7:c.1082C>A | ENSP00000312236.5:p.Ser361Ter | |
| ENST00000357654.7:c.4508C>A | ENSP00000350283.3:p.Ser1503Ter | |
| ENST00000461221.5:c.*4291C>A | ENSP00000418548.1:n.*4291C>A | |
| ENST00000468300.5:c.1196C>A | ENSP00000417148.1:p.Ser399Ter | |
| ENST00000471181.6:c.4571C>A | ENSP00000418960.2:p.Ser1524Ter | |
| ENST00000478531.5:c.1196C>A | ENSP00000420412.1:p.Ser399Ter | |
| ENST00000484087.5:c.821C>A | ENSP00000419481.1:p.Ser274Ter | |
| ENST00000491747.6:c.1196C>A | ENSP00000420705.2:p.Ser399Ter | |
| ENST00000493795.5:c.4367C>A | ENSP00000418775.1:p.Ser1456Ter | |
| ENST00000493919.5:c.1058C>A | ENSP00000418819.1:p.Ser353Ter | |
| ENST00000586385.5:c.5-10547C>A | ENSP00000465818.1:n.5-10547C>A | |
| ENST00000591534.5:c.-20C>A | ENSP00000467329.1:n.-20C>A | |
| ENST00000591849.5:c.-98-24308C>A | ENSP00000465347.1:n.-98-24308C>A | |
| NM_007294.3:c.4508C>A , LRG_292t1:c.4508C>A | NP_009225.1:p.Ser1503Ter | |
| NM_007297.3:c.4367C>A | NP_009228.2:p.Ser1456Ter | |
| NM_007298.3:c.1196C>A | NP_009229.2:p.Ser399Ter | |
| NM_007299.3:c.1196C>A | NP_009230.2:p.Ser399Ter | |
| NM_007300.3:c.4571C>A | NP_009231.2:p.Ser1524Ter | |
| NR_027676.1:n.4644C>A | ||
| NM_007294.4:c.4508C>A MANE Select | NP_009225.1:p.Ser1503Ter | |
| NM_007297.4:c.4367C>A | NP_009228.2:p.Ser1456Ter | |
| NM_007299.4:c.1196C>A | NP_009230.2:p.Ser399Ter | |
| NM_007300.4:c.4571C>A | NP_009231.2:p.Ser1524Ter | |
| NR_027676.2:n.4685C>A |