Linked Data
ClinVar Variation Id:
3818
ClinVar RCV Id:
RCV000004022
dbSNP Id:
rs121908010
gnomAD v4:
14-87963392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87963392C>A , CM000676.2:g.87963392C>A | GRCh38 |
| NC_000014.8:g.88429736C>A , CM000676.1:g.88429736C>A | GRCh37 |
| NC_000014.7:g.87499489C>A | NCBI36 |
| NG_011853.2:g.35172G>T | |
| NG_011853.3:g.35172G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1153G>T MANE Select | ENSP00000261304.2:p.Glu385Ter | |
| ENST00000261304.6:c.1153G>T | ENSP00000261304.2:p.Glu385Ter | |
| ENST00000393568.8:c.1084G>T | ENSP00000377198.4:p.Glu362Ter | |
| ENST00000393569.6:c.1075G>T | ENSP00000377199.2:p.Glu359Ter | |
| ENST00000474294.6:n.1143G>T | ||
| ENST00000544807.6:c.985G>T | ENSP00000437513.2:p.Glu329Ter | |
| ENST00000555000.5:c.520G>T | ENSP00000450472.1:p.Glu174Ter | |
| ENST00000557316.5:c.*551G>T | ENSP00000452314.1:n.*551G>T | |
| ENST00000557520.1:n.239G>T | ||
| ENST00000622264.4:c.1143G>T | ||
| NM_000153.3:c.1153G>T | NP_000144.2:p.Glu385Ter | |
| NM_001201401.1:c.1084G>T | NP_001188330.1:p.Glu362Ter | |
| NM_001201402.1:c.1075G>T | NP_001188331.1:p.Glu359Ter | |
| XM_011536618.1:c.985G>T | XP_011534920.1:p.Glu329Ter | |
| XM_011536618.2:c.985G>T | XP_011534920.1:p.Glu329Ter | |
| NM_000153.4:c.1153G>T MANE Select | NP_000144.2:p.Glu385Ter | |
| NM_001201401.2:c.1084G>T | NP_001188330.1:p.Glu362Ter | |
| NM_001201402.2:c.1075G>T | NP_001188331.1:p.Glu359Ter |