Linked Data
ClinVar Variation Id:
747397
ClinVar RCV Id:
RCV001475089
dbSNP Id:
rs772338291
ExAC:
14:88450777 G / A
gnomAD v2:
14-88450777-G-A
gnomAD v3:
14-87984433-G-A
gnomAD v4:
14-87984433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87984433G>A , CM000676.2:g.87984433G>A | GRCh38 |
| NC_000014.8:g.88450777G>A , CM000676.1:g.88450777G>A | GRCh37 |
| NC_000014.7:g.87520530G>A | NCBI36 |
| NG_011853.2:g.14131C>T | |
| NG_011853.3:g.14131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.543C>T MANE Select | ENSP00000261304.2:p.Gly181= | |
| ENST00000261304.6:c.543C>T | ENSP00000261304.2:p.Gly181= | |
| ENST00000393568.8:c.474C>T | ENSP00000377198.4:p.Gly158= | |
| ENST00000393569.6:c.465C>T | ENSP00000377199.2:p.Gly155= | |
| ENST00000474294.6:n.533C>T | ||
| ENST00000544807.6:c.375C>T | ENSP00000437513.2:p.Gly125= | |
| ENST00000554372.5:c.*292C>T | ENSP00000451884.1:n.*292C>T | |
| ENST00000554916.5:n.422C>T | ||
| ENST00000556261.5:n.244C>T | ||
| ENST00000557316.5:c.543C>T | ENSP00000452314.1:p.Gly181= | |
| ENST00000622264.4:c.533C>T | ||
| NM_000153.3:c.543C>T | NP_000144.2:p.Gly181= | |
| NM_001201401.1:c.474C>T | NP_001188330.1:p.Gly158= | |
| NM_001201402.1:c.465C>T | NP_001188331.1:p.Gly155= | |
| XM_011536618.1:c.375C>T | XP_011534920.1:p.Gly125= | |
| XM_011536618.2:c.375C>T | XP_011534920.1:p.Gly125= | |
| NM_000153.4:c.543C>T MANE Select | NP_000144.2:p.Gly181= | |
| NM_001201401.2:c.474C>T | NP_001188330.1:p.Gly158= | |
| NM_001201402.2:c.465C>T | NP_001188331.1:p.Gly155= |