Linked Data
ClinVar Variation Id:
224818
ClinVar RCV Id:
RCV000210391
RCV000478281
RCV001004753
RCV001265248
RCV003126605
RCV001853372
RCV004017491
dbSNP Id:
rs869312868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13571910C>T , CM000674.2:g.13571910C>T | GRCh38 |
| NC_000012.11:g.13724844C>T , CM000674.1:g.13724844C>T | GRCh37 |
| NC_000012.10:g.13616111C>T | NCBI36 |
| NG_031854.1:g.413179G>A | |
| NG_031854.2:g.415103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2065G>A MANE Select | ENSP00000477455.1:p.Gly689Ser | |
| ENST00000628166.2:n.325G>A | ||
| ENST00000637214.1:c.69+36693G>A | ENSP00000489997.1:n.69+36693G>A | |
| ENST00000609686.3:c.2065G>A | ENSP00000477455.1:p.Gly689Ser | |
| ENST00000628166.1:n.325G>A | ||
| NM_000834.3:c.2065G>A | NP_000825.2:p.Gly689Ser | |
| XM_005253351.2:c.-43-1893G>A | XP_005253408.1:n.-43-1893G>A | |
| XM_011520628.1:c.2065G>A | XP_011518930.1:p.Gly689Ser | |
| XM_011520629.1:c.2065G>A | XP_011518931.1:p.Gly689Ser | |
| XM_011520630.1:c.2065G>A | XP_011518932.1:p.Gly689Ser | |
| NM_000834.4:c.2065G>A | NP_000825.2:p.Gly689Ser | |
| XM_005253351.3:c.-43-1893G>A | XP_005253408.1:n.-43-1893G>A | |
| XM_011520628.2:c.2065G>A | XP_011518930.1:p.Gly689Ser | |
| XM_011520629.2:c.2065G>A | XP_011518931.1:p.Gly689Ser | |
| XM_017019219.2:c.2065G>A | XP_016874708.1:p.Gly689Ser | |
| NM_000834.5:c.2065G>A MANE Select | NP_000825.2:p.Gly689Ser |