Linked Data
ClinVar Variation Id:
1133275
ClinVar RCV Id:
RCV001467796
dbSNP Id:
rs373159695
ExAC:
14:88450837 G / A
gnomAD v2:
14-88450837-G-A
gnomAD v3:
14-87984493-G-A
gnomAD v4:
14-87984493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87984493G>A , CM000676.2:g.87984493G>A | GRCh38 |
| NC_000014.8:g.88450837G>A , CM000676.1:g.88450837G>A | GRCh37 |
| NC_000014.7:g.87520590G>A | NCBI36 |
| NG_011853.2:g.14071C>T | |
| NG_011853.3:g.14071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.483C>T MANE Select | ENSP00000261304.2:p.Phe161= | |
| ENST00000261304.6:c.483C>T | ENSP00000261304.2:p.Phe161= | |
| ENST00000393568.8:c.414C>T | ENSP00000377198.4:p.Phe138= | |
| ENST00000393569.6:c.405C>T | ENSP00000377199.2:p.Phe135= | |
| ENST00000474294.6:n.473C>T | ||
| ENST00000544807.6:c.315C>T | ENSP00000437513.2:p.Phe105= | |
| ENST00000554372.5:c.*232C>T | ENSP00000451884.1:n.*232C>T | |
| ENST00000554916.5:n.362C>T | ||
| ENST00000556261.5:n.184C>T | ||
| ENST00000556879.5:c.543C>T | ENSP00000452208.1:n.543C>T | |
| ENST00000557316.5:c.483C>T | ENSP00000452314.1:p.Phe161= | |
| ENST00000622264.4:c.473C>T | ||
| NM_000153.3:c.483C>T | NP_000144.2:p.Phe161= | |
| NM_001201401.1:c.414C>T | NP_001188330.1:p.Phe138= | |
| NM_001201402.1:c.405C>T | NP_001188331.1:p.Phe135= | |
| XM_011536618.1:c.315C>T | XP_011534920.1:p.Phe105= | |
| XM_011536618.2:c.315C>T | XP_011534920.1:p.Phe105= | |
| NM_000153.4:c.483C>T MANE Select | NP_000144.2:p.Phe161= | |
| NM_001201401.2:c.414C>T | NP_001188330.1:p.Phe138= | |
| NM_001201402.2:c.405C>T | NP_001188331.1:p.Phe135= |