Linked Data
ClinVar Variation Id:
188997
dbSNP Id:
rs749893889
ExAC:
14:88411976 G / A
gnomAD v2:
14-88411976-G-A
gnomAD v3:
14-87945632-G-A
gnomAD v4:
14-87945632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945632G>A , CM000676.2:g.87945632G>A | GRCh38 |
| NC_000014.8:g.88411976G>A , CM000676.1:g.88411976G>A | GRCh37 |
| NC_000014.7:g.87481729G>A | NCBI36 |
| NG_011853.2:g.52932C>T | |
| NG_011853.3:g.52932C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1591C>T MANE Select | ENSP00000261304.2:p.Arg531Cys | |
| ENST00000261304.6:c.1591C>T | ENSP00000261304.2:p.Arg531Cys | |
| ENST00000393568.8:c.1522C>T | ENSP00000377198.4:p.Arg508Cys | |
| ENST00000393569.6:c.1513C>T | ENSP00000377199.2:p.Arg505Cys | |
| ENST00000544807.6:c.1423C>T | ENSP00000437513.2:p.Arg475Cys | |
| ENST00000555000.5:c.958C>T | ENSP00000450472.1:p.Arg320Cys | |
| ENST00000555179.1:c.206+2096C>T | ||
| ENST00000557316.5:c.*989C>T | ENSP00000452314.1:n.*989C>T | |
| NM_000153.3:c.1591C>T | NP_000144.2:p.Arg531Cys | |
| NM_001201401.1:c.1522C>T | NP_001188330.1:p.Arg508Cys | |
| NM_001201402.1:c.1513C>T | NP_001188331.1:p.Arg505Cys | |
| XM_011536618.1:c.1423C>T | XP_011534920.1:p.Arg475Cys | |
| XM_011536618.2:c.1423C>T | XP_011534920.1:p.Arg475Cys | |
| NM_000153.4:c.1591C>T MANE Select | NP_000144.2:p.Arg531Cys | |
| NM_001201401.2:c.1522C>T | NP_001188330.1:p.Arg508Cys | |
| NM_001201402.2:c.1513C>T | NP_001188331.1:p.Arg505Cys |