Linked Data
ClinVar Variation Id:
100273
dbSNP Id:
rs61749366
ExAC:
12:6128905 A / G
gnomAD v2:
12-6128905-A-G
gnomAD v4:
12-6019739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019739A>G , CM000674.2:g.6019739A>G | GRCh38 |
| NC_000012.11:g.6128905A>G , CM000674.1:g.6128905A>G | GRCh37 |
| NC_000012.10:g.5999166A>G | NCBI36 |
| NG_009072.1:g.109932T>C | |
| NG_009072.2:g.109932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3679T>C MANE Select | ENSP00000261405.5:p.Cys1227Arg | |
| ENST00000261405.9:c.3679T>C | ENSP00000261405.5:p.Cys1227Arg | |
| ENST00000538635.5:n.421-25805T>C | ||
| ENST00000539641.1:n.477T>C | ||
| NM_000552.3:c.3679T>C | NP_000543.2:p.Cys1227Arg | |
| NM_000552.4:c.3679T>C | NP_000543.2:p.Cys1227Arg | |
| NM_000552.5:c.3679T>C MANE Select | NP_000543.3:p.Cys1227Arg |