Linked Data
ClinVar Variation Id:
2345990
ClinVar RCV Id:
RCV002936544
dbSNP Id:
rs374322915
ExAC:
12:52914038 G / A
gnomAD v2:
12-52914038-G-A
gnomAD v3:
12-52520254-G-A
gnomAD v4:
12-52520254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520254G>A , CM000674.2:g.52520254G>A | GRCh38 |
| NC_000012.11:g.52914038G>A , CM000674.1:g.52914038G>A | GRCh37 |
| NC_000012.10:g.51200305G>A | NCBI36 |
| NG_008297.1:g.5206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.43C>T MANE Select | ENSP00000252242.4:p.Arg15Cys | |
| ENST00000252242.8:c.43C>T | ENSP00000252242.4:p.Arg15Cys | |
| ENST00000546577.1:c.43C>T | ENSP00000449651.1:p.Arg15Cys | |
| ENST00000549420.1:c.43C>T | ENSP00000447209.1:p.Arg15Cys | |
| ENST00000551275.1:c.43C>T | ENSP00000448041.1:p.Arg15Cys | |
| ENST00000552629.5:n.141C>T | ||
| NM_000424.3:c.43C>T | NP_000415.2:p.Arg15Cys | |
| NM_000424.4:c.43C>T MANE Select | NP_000415.2:p.Arg15Cys |