Linked Data
ClinVar Variation Id:
517119
dbSNP Id:
rs770974455
gnomAD v2:
2-189910560-C-T
gnomAD v4:
2-189045834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045834C>T , CM000664.2:g.189045834C>T | GRCh38 |
| NC_000002.11:g.189910560C>T , CM000664.1:g.189910560C>T | GRCh37 |
| NC_000002.10:g.189618805C>T | NCBI36 |
| NG_011799.1:g.139046G>A | |
| NG_011799.2:g.139046G>A | |
| NG_011799.3:g.184468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3275G>A MANE Select | ENSP00000364000.3:p.Gly1092Asp | |
| ENST00000374866.7:c.3275G>A | ENSP00000364000.3:p.Gly1092Asp | |
| ENST00000618828.1:c.2114G>A | ENSP00000482184.1:p.Gly705Asp | |
| NM_000393.3:c.3275G>A | NP_000384.2:p.Gly1092Asp | |
| XM_011510573.1:c.3137G>A | XP_011508875.1:p.Gly1046Asp | |
| NM_000393.4:c.3275G>A | NP_000384.2:p.Gly1092Asp | |
| XM_011510573.3:c.3137G>A | XP_011508875.1:p.Gly1046Asp | |
| NM_000393.5:c.3275G>A MANE Select | NP_000384.2:p.Gly1092Asp |