Linked Data
ClinVar Variation Id:
133376
ClinVar RCV Id:
RCV000119877
dbSNP Id:
rs79308790
ExAC:
19:52693457 A / C
gnomAD v2:
19-52693457-A-C
gnomAD v3:
19-52190204-A-C
gnomAD v4:
19-52190204-A-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52190204A>C , CM000681.2:g.52190204A>C | GRCh38 |
| NC_000019.9:g.52693457A>C , CM000681.1:g.52693457A>C | GRCh37 |
| NC_000019.8:g.57385269A>C | NCBI36 |
| NG_047068.1:g.5403A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.108A>C | ENSP00000391905.3:p.Arg36Ser | |
| ENST00000703395.1:c.-459-11740A>C | ENSP00000515286.1:n.-459-11740A>C | |
| ENST00000703396.1:n.123+30A>C | ||
| ENST00000703397.1:c.-657+30A>C | ENSP00000515287.1:n.-657+30A>C | |
| ENST00000703398.1:c.78+30A>C | ENSP00000515288.1:n.78+30A>C | |
| ENST00000703421.1:n.231+1048A>C | ||
| ENST00000703422.1:c.78+30A>C | ENSP00000515292.1:n.78+30A>C | |
| ENST00000322088.11:c.78+30A>C MANE Select | ENSP00000324804.6:n.78+30A>C | |
| ENST00000322088.10:c.78+30A>C | ENSP00000324804.6:n.78+30A>C | |
| ENST00000454220.6:c.108A>C | ENSP00000391905.2:p.Arg36Ser | |
| ENST00000468280.5:n.61+30A>C | ||
| ENST00000477989.1:c.78+30A>C | ENSP00000471298.1:n.78+30A>C | |
| ENST00000490868.5:c.78+30A>C | ENSP00000469150.1:n.78+30A>C | |
| ENST00000628959.1:c.78+30A>C | ENSP00000485914.1:n.78+30A>C | |
| NM_014225.5:c.78+30A>C | NP_055040.2:n.78+30A>C | |
| NR_033500.1:n.373+30A>C | ||
| NM_014225.6:c.78+30A>C MANE Select | NP_055040.2:n.78+30A>C | |
| NR_033500.2:n.123+30A>C |