Linked Data
ClinVar Variation Id:
3116551
ClinVar RCV Id:
RCV004414399
dbSNP Id:
rs769725141
ExAC:
12:52913905 C / A
gnomAD v2:
12-52913905-C-A
gnomAD v3:
12-52520121-C-A
gnomAD v4:
12-52520121-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520121C>A , CM000674.2:g.52520121C>A | GRCh38 |
| NC_000012.11:g.52913905C>A , CM000674.1:g.52913905C>A | GRCh37 |
| NC_000012.10:g.51200172C>A | NCBI36 |
| NG_008297.1:g.5339G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.176G>T MANE Select | ENSP00000252242.4:p.Gly59Val | |
| ENST00000252242.8:c.176G>T | ENSP00000252242.4:p.Gly59Val | |
| ENST00000546577.1:c.176G>T | ENSP00000449651.1:p.Gly59Val | |
| ENST00000549420.1:c.43+133G>T | ENSP00000447209.1:n.43+133G>T | |
| ENST00000551275.1:c.172+4G>T | ENSP00000448041.1:n.172+4G>T | |
| ENST00000552629.5:n.274G>T | ||
| NM_000424.3:c.176G>T | NP_000415.2:p.Gly59Val | |
| NM_000424.4:c.176G>T MANE Select | NP_000415.2:p.Gly59Val |