Linked Data
ClinVar Variation Id:
1508226
ClinVar RCV Id:
RCV002013831
dbSNP Id:
rs1651975372
gnomAD v3:
1-119737148-A-C
gnomAD v4:
1-119737148-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737148A>C , CM000663.2:g.119737148A>C | GRCh38 |
| NC_000001.10:g.120279771A>C , CM000663.1:g.120279771A>C | GRCh37 |
| NC_000001.9:g.120081294A>C | NCBI36 |
| NG_009188.1:g.30353A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.827A>C | ENSP00000358417.5:p.Glu276Ala | |
| ENST00000469443.2:n.647A>C | ||
| ENST00000641023.2:c.827A>C MANE Select | ENSP00000493175.1:p.Glu276Ala | |
| ENST00000641074.1:c.827A>C | ENSP00000493446.1:p.Glu276Ala | |
| ENST00000641115.1:c.827A>C | ENSP00000493264.1:p.Glu276Ala | |
| ENST00000641213.1:c.*480A>C | ENSP00000493079.1:n.*480A>C | |
| ENST00000641314.1:n.812A>C | ||
| ENST00000641375.1:c.*663A>C | ENSP00000493089.1:n.*663A>C | |
| ENST00000641597.1:c.827A>C | ENSP00000493382.1:p.Glu276Ala | |
| ENST00000641756.1:c.*571A>C | ENSP00000493147.1:n.*571A>C | |
| ENST00000641811.1:c.583A>C | ||
| ENST00000641891.1:c.*653A>C | ENSP00000493288.1:n.*653A>C | |
| ENST00000641927.1:n.767A>C | ||
| ENST00000641947.1:c.827A>C | ENSP00000492994.1:p.Glu276Ala | |
| ENST00000642021.1:n.949A>C | ||
| ENST00000369407.3:c.725A>C | ENSP00000358415.3:p.Glu242Ala | |
| ENST00000369409.8:c.827A>C | ENSP00000358417.4:p.Glu276Ala | |
| NM_006623.3:c.827A>C | NP_006614.2:p.Glu276Ala | |
| XM_011541226.1:c.1049A>C | XP_011539528.1:p.Glu350Ala | |
| XM_011541227.1:c.971A>C | XP_011539529.1:p.Glu324Ala | |
| XM_011541228.1:c.938A>C | XP_011539530.1:p.Glu313Ala | |
| XM_011541229.1:c.764A>C | XP_011539531.1:p.Glu255Ala | |
| XM_011541230.1:c.542A>C | XP_011539532.1:p.Glu181Ala | |
| XM_011541231.1:c.533A>C | XP_011539533.1:p.Glu178Ala | |
| XM_011541226.2:c.1049A>C | XP_011539528.1:p.Glu350Ala | |
| XM_011541227.2:c.971A>C | XP_011539529.1:p.Glu324Ala | |
| XM_011541228.2:c.938A>C | XP_011539530.1:p.Glu313Ala | |
| XM_011541231.2:c.533A>C | XP_011539533.1:p.Glu178Ala | |
| XM_024446338.1:c.938A>C | XP_024302106.1:p.Glu313Ala | |
| NM_006623.4:c.827A>C MANE Select | NP_006614.2:p.Glu276Ala |