Linked Data
ClinVar Variation Id:
653091
ClinVar RCV Id:
RCV000808789
dbSNP Id:
rs1003591437
gnomAD v2:
12-5153543-C-G
gnomAD v3:
12-5044377-C-G
gnomAD v4:
12-5044377-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044377C>G , CM000674.2:g.5044377C>G | GRCh38 |
| NC_000012.11:g.5153543C>G , CM000674.1:g.5153543C>G | GRCh37 |
| NC_000012.10:g.5023804C>G | NCBI36 |
| NG_012198.1:g.5459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.230C>G MANE Select | ENSP00000252321.3:p.Pro77Arg | |
| ENST00000252321.4:c.230C>G | ENSP00000252321.3:p.Pro77Arg | |
| NM_002234.3:c.230C>G | NP_002225.2:p.Pro77Arg | |
| NM_002234.4:c.230C>G MANE Select | NP_002225.2:p.Pro77Arg |