Linked Data
ClinVar Variation Id:
1011369
ClinVar RCV Id:
RCV001309156
dbSNP Id:
rs753392540
gnomAD v3:
12-14978070-C-T
gnomAD v4:
12-14978070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978070C>T , CM000674.2:g.14978070C>T | GRCh38 |
| NC_000012.11:g.15131004C>T , CM000674.1:g.15131004C>T | GRCh37 |
| NC_000012.10:g.15022271C>T | NCBI36 |
| NG_016859.1:g.10049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.58C>T MANE Select | ENSP00000266395.2:p.Arg20Cys | |
| ENST00000266395.2:c.58C>T | ENSP00000266395.2:p.Arg20Cys | |
| NM_006205.2:c.58C>T | NP_006196.1:p.Arg20Cys | |
| XR_931376.1:n.175+11417G>A | ||
| XM_017019431.2:c.58C>T | XP_016874920.1:p.Arg20Cys | |
| XR_931376.2:n.389+11417G>A | ||
| NM_006205.3:c.58C>T MANE Select | NP_006196.1:p.Arg20Cys |