Linked Data
ClinVar Variation Id:
2730085
ClinVar RCV Id:
RCV003516160
dbSNP Id:
rs202083721
gnomAD v2:
12-5153542-C-G
gnomAD v3:
12-5044376-C-G
gnomAD v4:
12-5044376-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044376C>G , CM000674.2:g.5044376C>G | GRCh38 |
| NC_000012.11:g.5153542C>G , CM000674.1:g.5153542C>G | GRCh37 |
| NC_000012.10:g.5023803C>G | NCBI36 |
| NG_012198.1:g.5458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.229C>G MANE Select | ENSP00000252321.3:p.Pro77Ala | |
| ENST00000252321.4:c.229C>G | ENSP00000252321.3:p.Pro77Ala | |
| NM_002234.3:c.229C>G | NP_002225.2:p.Pro77Ala | |
| NM_002234.4:c.229C>G MANE Select | NP_002225.2:p.Pro77Ala |