Linked Data
ClinVar Variation Id:
48471
ClinVar RCV Id:
RCV000041794
RCV000413438
RCV000678646
RCV000787727
RCV002483034
RCV000984314
RCV001074602
dbSNP Id:
rs111033273
ExAC:
1:216495263 A / G
gnomAD v2:
1-216495263-A-G
gnomAD v3:
1-216321921-A-G
gnomAD v4:
1-216321921-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216321921A>G , CM000663.2:g.216321921A>G | GRCh38 |
| NC_000001.10:g.216495263A>G , CM000663.1:g.216495263A>G | GRCh37 |
| NC_000001.9:g.214561886A>G | NCBI36 |
| NG_009497.1:g.106476T>C | |
| NG_009497.2:g.106528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1606T>C MANE Select | ENSP00000305941.3:p.Cys536Arg | |
| ENST00000674083.1:c.1606T>C | ENSP00000501296.1:p.Cys536Arg | |
| ENST00000307340.7:c.1606T>C | ENSP00000305941.3:p.Cys536Arg | |
| ENST00000366942.3:c.1606T>C | ENSP00000355909.3:p.Cys536Arg | |
| NM_007123.5:c.1606T>C | NP_009054.5:p.Cys536Arg | |
| NM_206933.2:c.1606T>C | NP_996816.2:p.Cys536Arg | |
| NM_206933.3:c.1606T>C | NP_996816.2:p.Cys536Arg | |
| NM_007123.6:c.1606T>C | NP_009054.6:p.Cys536Arg | |
| NM_206933.4:c.1606T>C MANE Select | NP_996816.3:p.Cys536Arg |