Linked Data
ClinVar Variation Id:
719521
ClinVar RCV Id:
RCV000892681
dbSNP Id:
rs146874664
ExAC:
17:64873507 T / C
gnomAD v2:
17-64873507-T-C
gnomAD v3:
17-66877389-T-C
gnomAD v4:
17-66877389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66877389T>C , CM000679.2:g.66877389T>C | GRCh38 |
| NC_000017.10:g.64873507T>C , CM000679.1:g.64873507T>C | GRCh37 |
| NC_000017.9:g.62303969T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533854.6:c.57T>C MANE Select | ENSP00000436836.1:p.Cys19= | |
| ENST00000673855.1:c.57T>C | ENSP00000501267.1:p.Cys19= | |
| ENST00000307139.4:c.57T>C | ENSP00000303092.3:p.Cys19= | |
| ENST00000533854.5:c.57T>C | ENSP00000436836.1:p.Cys19= | |
| NM_145811.2:c.57T>C | NP_665810.1:p.Cys19= | |
| XM_011524613.1:c.57T>C | XP_011522915.1:p.Cys19= | |
| NM_001371476.1:c.57T>C | NP_001358405.1:p.Cys19= | |
| NM_145811.3:c.57T>C MANE Select | NP_665810.1:p.Cys19= |