Linked Data
ClinVar Variation Id:
137854
dbSNP Id:
rs2259136
ExAC:
6:3225759 C / A
gnomAD v2:
6-3225759-C-A
gnomAD v3:
6-3225525-C-A
gnomAD v4:
6-3225525-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225525C>A , CM000668.2:g.3225525C>A | GRCh38 |
| NC_000006.11:g.3225759C>A , CM000668.1:g.3225759C>A | GRCh37 |
| NC_000006.10:g.3170758C>A | NCBI36 |
| NG_016715.1:g.7210G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.564G>T MANE Select | ENSP00000259818.6:p.Ser188= | |
| ENST00000680070.1:n.1494G>T | ||
| ENST00000681707.1:n.1391G>T | ||
| ENST00000681757.1:n.869G>T | ||
| ENST00000259818.7:c.564G>T | ENSP00000259818.6:p.Ser188= | |
| ENST00000473006.1:n.681G>T | ||
| NM_178012.4:c.564G>T | NP_821080.1:p.Ser188= | |
| XM_011514571.1:c.348G>T | XP_011512873.1:p.Ser116= | |
| NM_178012.5:c.564G>T MANE Select | NP_821080.1:p.Ser188= |