Linked Data
ClinVar Variation Id:
284653
dbSNP Id:
rs113247976
ExAC:
12:57975700 C / G
gnomAD v2:
12-57975700-C-G
gnomAD v3:
12-57581917-C-G
gnomAD v4:
12-57581917-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581917C>G , CM000674.2:g.57581917C>G | GRCh38 |
| NC_000012.11:g.57975700C>G , CM000674.1:g.57975700C>G | GRCh37 |
| NC_000012.10:g.56261967C>G | NCBI36 |
| NG_008155.1:g.36854C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455537.7:c.2957C>G MANE Select | ENSP00000408979.2:p.Pro986Arg | |
| ENST00000674619.1:c.2978C>G | ENSP00000502270.1:p.Pro993Arg | |
| ENST00000675697.1:c.48C>G | ||
| ENST00000675737.1:n.361C>G | ||
| ENST00000675882.1:n.2480C>G | ||
| ENST00000675929.1:n.1515C>G | ||
| ENST00000676055.1:c.48C>G | ||
| ENST00000676457.1:c.2852C>G | ENSP00000501588.1:p.Pro951Arg | |
| ENST00000286452.5:c.2690C>G | ENSP00000286452.5:p.Pro897Arg | |
| ENST00000455537.6:c.2957C>G | ENSP00000408979.2:p.Pro986Arg | |
| ENST00000552227.1:n.240C>G | ||
| NM_004984.2:c.2957C>G | NP_004975.2:p.Pro986Arg | |
| NM_001354705.1:c.2690C>G | NP_001341634.1:p.Pro897Arg | |
| NM_004984.3:c.2957C>G | NP_004975.2:p.Pro986Arg | |
| XR_002957324.1:n.3190C>G | ||
| NM_004984.4:c.2957C>G MANE Select | NP_004975.2:p.Pro986Arg | |
| NM_001354705.2:c.2690C>G | NP_001341634.1:p.Pro897Arg |