Linked Data
ClinVar Variation Id:
189024
dbSNP Id:
rs766310671
ExAC:
14:88442796 G / A
gnomAD v2:
14-88442796-G-A
gnomAD v4:
14-87976452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976452G>A , CM000676.2:g.87976452G>A | GRCh38 |
| NC_000014.8:g.88442796G>A , CM000676.1:g.88442796G>A | GRCh37 |
| NC_000014.7:g.87512549G>A | NCBI36 |
| NG_011853.2:g.22112C>T | |
| NG_011853.3:g.22112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.658C>T MANE Select | ENSP00000261304.2:p.Arg220Ter | |
| ENST00000261304.6:c.658C>T | ENSP00000261304.2:p.Arg220Ter | |
| ENST00000393568.8:c.589C>T | ENSP00000377198.4:p.Arg197Ter | |
| ENST00000393569.6:c.580C>T | ENSP00000377199.2:p.Arg194Ter | |
| ENST00000474294.6:n.648C>T | ||
| ENST00000477716.3:n.413C>T | ||
| ENST00000544807.6:c.490C>T | ENSP00000437513.2:p.Arg164Ter | |
| ENST00000554916.5:n.537C>T | ||
| ENST00000555000.5:c.25C>T | ENSP00000450472.1:p.Arg9Ter | |
| ENST00000557316.5:c.*56C>T | ENSP00000452314.1:n.*56C>T | |
| ENST00000622264.4:c.648C>T | ||
| NM_000153.3:c.658C>T | NP_000144.2:p.Arg220Ter | |
| NM_001201401.1:c.589C>T | NP_001188330.1:p.Arg197Ter | |
| NM_001201402.1:c.580C>T | NP_001188331.1:p.Arg194Ter | |
| XM_011536618.1:c.490C>T | XP_011534920.1:p.Arg164Ter | |
| XM_011536618.2:c.490C>T | XP_011534920.1:p.Arg164Ter | |
| NM_000153.4:c.658C>T MANE Select | NP_000144.2:p.Arg220Ter | |
| NM_001201401.2:c.589C>T | NP_001188330.1:p.Arg197Ter | |
| NM_001201402.2:c.580C>T | NP_001188331.1:p.Arg194Ter |