Linked Data
ClinVar Variation Id:
2956948
ClinVar RCV Id:
RCV003816659
dbSNP Id:
rs1379522327
gnomAD v2:
7-45614393-C-G
gnomAD v4:
7-45574794-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45574794C>G , CM000669.2:g.45574794C>G | GRCh38 |
| NC_000007.13:g.45614393C>G , CM000669.1:g.45614393C>G | GRCh37 |
| NC_000007.12:g.45580918C>G | NCBI36 |
| NG_034198.1:g.5655C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297323.12:c.251C>G MANE Select | ENSP00000297323.7:p.Pro84Arg | |
| ENST00000297323.11:c.251C>G | ENSP00000297323.7:p.Pro84Arg | |
| ENST00000432715.5:c.-330-95C>G | ENSP00000392721.1:n.-330-95C>G | |
| NM_001281768.1:c.-330-95C>G | NP_001268697.1:n.-330-95C>G | |
| NM_021116.2:c.251C>G | NP_066939.1:p.Pro84Arg | |
| XM_005249584.2:c.251C>G | XP_005249641.1:p.Pro84Arg | |
| XM_005249585.1:c.251C>G | XP_005249642.1:p.Pro84Arg | |
| NM_021116.3:c.251C>G | NP_066939.1:p.Pro84Arg | |
| XM_005249584.3:c.251C>G | XP_005249641.1:p.Pro84Arg | |
| XM_005249585.2:c.251C>G | XP_005249642.1:p.Pro84Arg | |
| NM_021116.4:c.251C>G MANE Select | NP_066939.1:p.Pro84Arg | |
| NM_001281768.2:c.-330-95C>G | NP_001268697.1:n.-330-95C>G |