Linked Data
ClinVar Variation Id:
886503
dbSNP Id:
rs773666802
ExAC:
14:88442746 G / A
gnomAD v2:
14-88442746-G-A
gnomAD v3:
14-87976402-G-A
gnomAD v4:
14-87976402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976402G>A , CM000676.2:g.87976402G>A | GRCh38 |
| NC_000014.8:g.88442746G>A , CM000676.1:g.88442746G>A | GRCh37 |
| NC_000014.7:g.87512499G>A | NCBI36 |
| NG_011853.2:g.22162C>T | |
| NG_011853.3:g.22162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.708C>T MANE Select | ENSP00000261304.2:p.Ser236= | |
| ENST00000261304.6:c.708C>T | ENSP00000261304.2:p.Ser236= | |
| ENST00000393568.8:c.639C>T | ENSP00000377198.4:p.Ser213= | |
| ENST00000393569.6:c.630C>T | ENSP00000377199.2:p.Ser210= | |
| ENST00000474294.6:n.698C>T | ||
| ENST00000477716.3:n.463C>T | ||
| ENST00000544807.6:c.540C>T | ENSP00000437513.2:p.Ser180= | |
| ENST00000554916.5:n.587C>T | ||
| ENST00000555000.5:c.75C>T | ENSP00000450472.1:p.Ser25= | |
| ENST00000557316.5:c.*106C>T | ENSP00000452314.1:n.*106C>T | |
| ENST00000622264.4:c.698C>T | ||
| NM_000153.3:c.708C>T | NP_000144.2:p.Ser236= | |
| NM_001201401.1:c.639C>T | NP_001188330.1:p.Ser213= | |
| NM_001201402.1:c.630C>T | NP_001188331.1:p.Ser210= | |
| XM_011536618.1:c.540C>T | XP_011534920.1:p.Ser180= | |
| XM_011536618.2:c.540C>T | XP_011534920.1:p.Ser180= | |
| NM_000153.4:c.708C>T MANE Select | NP_000144.2:p.Ser236= | |
| NM_001201401.2:c.639C>T | NP_001188330.1:p.Ser213= | |
| NM_001201402.2:c.630C>T | NP_001188331.1:p.Ser210= |