Linked Data
ClinVar Variation Id:
30794
ClinVar RCV Id:
RCV000023779
dbSNP Id:
rs387907014
gnomAD v3:
1-161077548-G-C
gnomAD v4:
1-161077548-G-C
PubMed:
PMID:21346770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161077548G>C , CM000663.2:g.161077548G>C | GRCh38 |
| NC_000001.10:g.161047338G>C , CM000663.1:g.161047338G>C | GRCh37 |
| NC_000001.9:g.159313962G>C | NCBI36 |
| NG_028109.1:g.17048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368012.4:c.635C>G MANE Select | ENSP00000356991.3:p.Pro212Arg | |
| ENST00000368012.3:c.635C>G | ENSP00000356991.3:p.Pro212Arg | |
| NM_030916.2:c.635C>G | NP_112178.2:p.Pro212Arg | |
| XM_005245508.2:c.635C>G | XP_005245565.1:p.Pro212Arg | |
| XM_011510021.1:c.635C>G | XP_011508323.1:p.Pro212Arg | |
| XM_011510022.1:c.635C>G | XP_011508324.1:p.Pro212Arg | |
| XM_011510023.1:c.635C>G | XP_011508325.1:p.Pro212Arg | |
| XM_005245508.3:c.635C>G | XP_005245565.1:p.Pro212Arg | |
| XM_011510021.2:c.635C>G | XP_011508323.1:p.Pro212Arg | |
| XM_011510022.2:c.635C>G | XP_011508324.1:p.Pro212Arg | |
| NM_030916.3:c.635C>G MANE Select | NP_112178.2:p.Pro212Arg |