Linked Data
ClinVar Variation Id:
1034629
ClinVar RCV Id:
RCV001337383
dbSNP Id:
rs747919632
gnomAD v2:
12-5154013-C-A
gnomAD v3:
12-5044847-C-A
gnomAD v4:
12-5044847-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044847C>A , CM000674.2:g.5044847C>A | GRCh38 |
| NC_000012.11:g.5154013C>A , CM000674.1:g.5154013C>A | GRCh37 |
| NC_000012.10:g.5024274C>A | NCBI36 |
| NG_012198.1:g.5929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.700C>A MANE Select | ENSP00000252321.3:p.Arg234Ser | |
| ENST00000252321.4:c.700C>A | ENSP00000252321.3:p.Arg234Ser | |
| NM_002234.3:c.700C>A | NP_002225.2:p.Arg234Ser | |
| NM_002234.4:c.700C>A MANE Select | NP_002225.2:p.Arg234Ser |