Linked Data
ClinVar Variation Id:
496658
dbSNP Id:
rs774416016
ExAC:
1:201022696 C / G
gnomAD v2:
1-201022696-C-G
gnomAD v3:
1-201053568-C-G
gnomAD v4:
1-201053568-C-G
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201053568C>G , CM000663.2:g.201053568C>G | GRCh38 |
| NC_000001.10:g.201022696C>G , CM000663.1:g.201022696C>G | GRCh37 |
| NC_000001.9:g.199289319C>G | NCBI36 |
| NG_009816.1:g.63999G>C | |
| NG_009816.2:g.63999G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3686G>C MANE Select | ENSP00000355192.3:p.Arg1229Pro | |
| ENST00000679417.1:c.*2849G>C | ENSP00000506706.1:n.*2849G>C | |
| ENST00000680051.1:n.812G>C | ||
| ENST00000680059.1:c.*1204G>C | ENSP00000504944.1:n.*1204G>C | |
| ENST00000681078.1:c.3686G>C | ENSP00000506645.1:p.Arg1229Pro | |
| ENST00000681190.1:c.3686G>C | ENSP00000506428.1:p.Arg1229Pro | |
| ENST00000681874.1:c.3626G>C | ENSP00000505162.1:p.Arg1209Pro | |
| ENST00000362061.3:c.3686G>C | ENSP00000355192.3:p.Arg1229Pro | |
| ENST00000367338.7:c.3629G>C | ENSP00000356307.3:p.Arg1210Pro | |
| NM_000069.2:c.3686G>C | NP_000060.2:p.Arg1229Pro | |
| XM_005245478.2:c.3629G>C | XP_005245535.1:p.Arg1210Pro | |
| XM_005245478.3:c.3629G>C | XP_005245535.1:p.Arg1210Pro | |
| NM_000069.3:c.3686G>C MANE Select | NP_000060.2:p.Arg1229Pro |