Linked Data
ClinVar Variation Id:
1427763
ClinVar RCV Id:
RCV001964689
dbSNP Id:
rs150187626
ExAC:
4:187130030 C / T
gnomAD v2:
4-187130030-C-T
gnomAD v3:
4-186208876-C-T
gnomAD v4:
4-186208876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208876C>T , CM000666.2:g.186208876C>T | GRCh38 |
| NC_000004.11:g.187130030C>T , CM000666.1:g.187130030C>T | GRCh37 |
| NC_000004.10:g.187367024C>T | NCBI36 |
| NG_007965.1:g.22357C>T | |
| NG_012095.2:g.4898C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1102C>T MANE Select | ENSP00000368079.4:p.Arg368Cys | |
| ENST00000378802.4:c.1102C>T | ENSP00000368079.4:p.Arg368Cys | |
| ENST00000502665.1:n.337C>T | ||
| ENST00000507209.5:n.5800C>T | ||
| ENST00000513354.5:n.192C>T | ||
| NM_207352.3:c.1102C>T | NP_997235.3:p.Arg368Cys | |
| XM_005262935.2:c.1102C>T | XP_005262992.1:p.Arg368Cys | |
| XM_006714184.2:c.706C>T | XP_006714247.1:p.Arg236Cys | |
| XM_005262935.4:c.1102C>T | XP_005262992.1:p.Arg368Cys | |
| XM_017008037.1:c.706C>T | XP_016863526.1:p.Arg236Cys | |
| NM_207352.4:c.1102C>T MANE Select | NP_997235.3:p.Arg368Cys |