Linked Data
ClinVar Variation Id:
1549626
ClinVar RCV Id:
RCV002189440
dbSNP Id:
rs2020959
ExAC:
16:14041622 C / T
gnomAD v2:
16-14041622-C-T
gnomAD v3:
16-13947765-C-T
gnomAD v4:
16-13947765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947765C>T , CM000678.2:g.13947765C>T | GRCh38 |
| NC_000016.9:g.14041622C>T , CM000678.1:g.14041622C>T | GRCh37 |
| NC_000016.8:g.13949123C>T | NCBI36 |
| NG_011442.1:g.32609C>T , LRG_463:g.32609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2307C>T | ENSP00000507912.1:p.Cys769= | |
| ENST00000683962.1:c.*1863C>T | ENSP00000506854.1:n.*1863C>T | |
| ENST00000311895.8:c.2169C>T MANE Select | ENSP00000310520.7:p.Cys723= | |
| ENST00000311895.7:c.2169C>T | ENSP00000310520.7:p.Cys723= | |
| ENST00000389138.7:n.1446C>T | ||
| ENST00000462862.1:c.482C>T | ENSP00000461322.1:n.482C>T | |
| NM_005236.2:c.2169C>T , LRG_463t1:c.2169C>T | NP_005227.1:p.Cys723= | |
| XM_011522424.1:c.2307C>T | XP_011520726.1:p.Cys769= | |
| XM_011522425.1:c.1626C>T | XP_011520727.1:p.Cys542= | |
| XM_011522426.1:c.1380C>T | XP_011520728.1:p.Cys460= | |
| XM_011522427.1:c.819C>T | XP_011520729.1:p.Cys273= | |
| XR_932805.1:n.2328C>T | ||
| XM_011522424.3:c.2307C>T | XP_011520726.1:p.Cys769= | |
| XM_017023043.2:c.1380C>T | XP_016878532.1:p.Cys460= | |
| NM_005236.3:c.2169C>T MANE Select | NP_005227.1:p.Cys723= |