Linked Data
ClinVar Variation Id:
1369846
dbSNP Id:
rs772938056
ExAC:
7:299842 C / T
gnomAD v2:
7-299842-C-T
gnomAD v3:
7-259876-C-T
gnomAD v4:
7-259876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.259876C>T , CM000669.2:g.259876C>T | GRCh38 |
| NC_000007.13:g.299842C>T , CM000669.1:g.299842C>T | GRCh37 |
| NG_033970.1:g.69512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1651C>T MANE Select | ENSP00000322323.5:p.Arg551Cys | |
| ENST00000313766.5:c.1651C>T | ENSP00000322323.5:p.Arg551Cys | |
| ENST00000515795.1:n.1308C>T | ||
| NM_020223.3:c.1651C>T | NP_064608.2:p.Arg551Cys | |
| XR_242097.3:n.1798C>T | ||
| XM_017012450.1:c.1912C>T | XP_016867939.1:p.Arg638Cys | |
| XM_017012451.1:c.1909C>T | XP_016867940.1:p.Arg637Cys | |
| XM_017012455.2:c.949C>T | XP_016867944.1:p.Arg317Cys | |
| NM_020223.4:c.1651C>T MANE Select | NP_064608.2:p.Arg551Cys |