Linked Data
ClinVar Variation Id:
252555
dbSNP Id:
rs200407907
ExAC:
1:64104434 C / A
gnomAD v2:
1-64104434-C-A
gnomAD v3:
1-63638763-C-A
gnomAD v4:
1-63638763-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63638763C>A , CM000663.2:g.63638763C>A | GRCh38 |
| NC_000001.10:g.64104434C>A , CM000663.1:g.64104434C>A | GRCh37 |
| NC_000001.9:g.63877022C>A | NCBI36 |
| NG_016966.1:g.50488C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1107C>A MANE Select | ENSP00000360125.3:p.Ser369Arg | |
| ENST00000650546.1:c.1107C>A | ENSP00000497812.1:p.Ser369Arg | |
| ENST00000371083.4:c.1161C>A | ENSP00000360124.4:p.Ser387Arg | |
| ENST00000371084.7:c.1107C>A | ENSP00000360125.3:p.Ser369Arg | |
| ENST00000540265.5:c.516C>A | ENSP00000443449.1:p.Ser172Arg | |
| NM_001172818.1:c.1161C>A | NP_001166289.1:p.Ser387Arg | |
| NM_001172819.1:c.516C>A | NP_001166290.1:p.Ser172Arg | |
| NM_002633.2:c.1107C>A | NP_002624.2:p.Ser369Arg | |
| NM_002633.3:c.1107C>A MANE Select | NP_002624.2:p.Ser369Arg | |
| NM_001172819.2:c.516C>A | NP_001166290.1:p.Ser172Arg |