Linked Data
ClinVar Variation Id:
491184
ClinVar RCV Id:
RCV000584106
dbSNP Id:
rs1555593332
gnomAD v4:
17-43094856-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094856A>C , CM000679.2:g.43094856A>C | GRCh38 |
| NC_000017.10:g.41246873A>C , CM000679.1:g.41246873A>C | GRCh37 |
| NC_000017.9:g.38500399A>C | NCBI36 |
| NG_005905.2:g.123128T>G , LRG_292:g.123128T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.739T>G | ||
| ENST00000461574.2:c.675T>G | ENSP00000417241.2:p.Ala225= | |
| ENST00000470026.6:c.675T>G | ENSP00000419274.2:p.Ala225= | |
| ENST00000473961.6:c.549T>G | ENSP00000420201.2:p.Ala183= | |
| ENST00000476777.6:c.672T>G | ENSP00000417554.2:p.Ala224= | |
| ENST00000477152.6:c.597T>G | ENSP00000419988.2:p.Ala199= | |
| ENST00000478531.6:c.672T>G | ENSP00000420412.2:p.Ala224= | |
| ENST00000489037.2:c.597T>G | ENSP00000420781.2:p.Ala199= | |
| ENST00000493919.6:c.534T>G | ENSP00000418819.2:p.Ala178= | |
| ENST00000494123.6:c.675T>G | ENSP00000419103.2:p.Ala225= | |
| ENST00000497488.2:c.-214T>G | ENSP00000418986.2:n.-214T>G | |
| ENST00000618469.2:c.675T>G | ENSP00000478114.2:p.Ala225= | |
| ENST00000634433.2:c.552T>G | ENSP00000489431.2:p.Ala184= | |
| ENST00000644379.2:c.675T>G | ENSP00000496570.2:p.Ala225= | |
| ENST00000644555.2:c.534T>G | ENSP00000494614.2:p.Ala178= | |
| ENST00000652672.2:c.534T>G | ENSP00000498906.2:p.Ala178= | |
| ENST00000484087.6:c.552T>G | ENSP00000419481.2:p.Ala184= | |
| ENST00000700182.1:c.594T>G | ENSP00000514849.1:p.Ala198= | |
| ENST00000700183.1:c.*683T>G | ENSP00000514850.1:n.*683T>G | |
| ENST00000357654.9:c.675T>G MANE Select | ENSP00000350283.3:p.Ala225= | |
| ENST00000471181.7:c.675T>G | ENSP00000418960.2:p.Ala225= | |
| ENST00000642945.1:c.*549T>G | ENSP00000495897.1:n.*549T>G | |
| ENST00000652672.1:c.534T>G | ENSP00000498906.1:p.Ala178= | |
| ENST00000352993.7:c.670+990T>G | ENSP00000312236.5:n.670+990T>G | |
| ENST00000354071.7:c.675T>G | ENSP00000326002.7:p.Ala225= | |
| ENST00000357654.7:c.675T>G | ENSP00000350283.3:p.Ala225= | |
| ENST00000412061.3:c.26T>G | ||
| ENST00000461221.5:c.*458T>G | ENSP00000418548.1:n.*458T>G | |
| ENST00000468300.5:c.675T>G | ENSP00000417148.1:p.Ala225= | |
| ENST00000470026.5:c.675T>G | ENSP00000419274.1:p.Ala225= | |
| ENST00000471181.6:c.675T>G | ENSP00000418960.2:p.Ala225= | |
| ENST00000473961.5:c.272T>G | ||
| ENST00000477152.5:c.597T>G | ENSP00000419988.1:p.Ala199= | |
| ENST00000478531.5:c.672T>G | ENSP00000420412.1:p.Ala224= | |
| ENST00000484087.5:c.297T>G | ENSP00000419481.1:p.Ala99= | |
| ENST00000487825.5:c.300T>G | ENSP00000418212.1:p.Ala100= | |
| ENST00000491747.6:c.675T>G | ENSP00000420705.2:p.Ala225= | |
| ENST00000492859.5:c.*611T>G | ENSP00000420253.1:n.*611T>G | |
| ENST00000493795.5:c.534T>G | ENSP00000418775.1:p.Ala178= | |
| ENST00000493919.5:c.534T>G | ENSP00000418819.1:p.Ala178= | |
| ENST00000494123.5:c.675T>G | ENSP00000419103.1:p.Ala225= | |
| ENST00000497488.1:c.-214T>G | ENSP00000418986.1:n.-214T>G | |
| ENST00000586385.5:c.4+30326T>G | ENSP00000465818.1:n.4+30326T>G | |
| ENST00000591534.5:c.-43-20335T>G | ENSP00000467329.1:n.-43-20335T>G | |
| ENST00000591849.5:c.-99+30415T>G | ENSP00000465347.1:n.-99+30415T>G | |
| ENST00000634433.1:c.552T>G | ENSP00000489431.1:p.Ala184= | |
| NM_007294.3:c.675T>G , LRG_292t1:c.675T>G | NP_009225.1:p.Ala225= | |
| NM_007297.3:c.534T>G | NP_009228.2:p.Ala178= | |
| NM_007298.3:c.675T>G | NP_009229.2:p.Ala225= | |
| NM_007299.3:c.675T>G | NP_009230.2:p.Ala225= | |
| NM_007300.3:c.675T>G | NP_009231.2:p.Ala225= | |
| NR_027676.1:n.811T>G | ||
| NM_007294.4:c.675T>G MANE Select | NP_009225.1:p.Ala225= | |
| NM_007297.4:c.534T>G | NP_009228.2:p.Ala178= | |
| NM_007299.4:c.675T>G | NP_009230.2:p.Ala225= | |
| NM_007300.4:c.675T>G | NP_009231.2:p.Ala225= | |
| NR_027676.2:n.852T>G |