Linked Data
ClinVar Variation Id:
429888
ClinVar RCV Id:
RCV000493171
dbSNP Id:
rs752611838
ExAC:
17:62022164 C / A
gnomAD v2:
17-62022164-C-A
gnomAD v4:
17-63944804-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944804C>A , CM000679.2:g.63944804C>A | GRCh38 |
| NC_000017.10:g.62022164C>A , CM000679.1:g.62022164C>A | GRCh37 |
| NC_000017.9:g.59375896C>A | NCBI36 |
| NG_011699.1:g.33115G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.3781G>T MANE Select | ENSP00000396320.1:p.Glu1261Ter | |
| ENST00000578147.5:c.3781G>T | ENSP00000463963.1:p.Glu1261Ter | |
| NM_000334.4:c.3781G>T MANE Select | NP_000325.4:p.Glu1261Ter | |
| XM_005257566.3:c.3781G>T | XP_005257623.1:p.Glu1261Ter |