Linked Data
ClinVar Variation Id:
217705
dbSNP Id:
rs779526456
ExAC:
11:61161436 C / T
gnomAD v2:
11-61161436-C-T
gnomAD v4:
11-61393964-C-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393964C>T , CM000673.2:g.61393964C>T | GRCh38 |
| NC_000011.9:g.61161436C>T , CM000673.1:g.61161436C>T | GRCh37 |
| NC_000011.8:g.60918012C>T | NCBI36 |
| NG_032976.1:g.6605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.217C>T | ENSP00000334844.5:p.Arg73Cys | |
| ENST00000544795.6:n.494C>T | ||
| ENST00000684926.1:n.233C>T | ||
| ENST00000688959.1:c.-43C>T | ENSP00000509213.1:n.-43C>T | |
| ENST00000690736.1:c.217C>T | ENSP00000508542.1:p.Arg73Cys | |
| ENST00000515837.7:c.217C>T MANE Select | ENSP00000440638.1:p.Arg73Cys | |
| ENST00000334888.9:c.217C>T | ENSP00000334844.5:p.Arg73Cys | |
| ENST00000398979.7:c.34C>T | ENSP00000381950.3:p.Arg12Cys | |
| ENST00000515837.6:c.217C>T | ENSP00000440638.1:p.Arg73Cys | |
| ENST00000541473.1:n.231C>T | ||
| ENST00000544795.5:n.233C>T | ||
| NM_001173990.2:c.217C>T | NP_001167461.1:p.Arg73Cys | |
| NM_001173991.2:c.217C>T | NP_001167462.1:p.Arg73Cys | |
| NM_016499.5:c.34C>T | NP_057583.2:p.Arg12Cys | |
| XM_005274039.3:c.34C>T | XP_005274096.1:p.Arg12Cys | |
| NM_001330285.1:c.34C>T | NP_001317214.1:p.Arg12Cys | |
| XM_005274039.4:c.34C>T | XP_005274096.1:p.Arg12Cys | |
| NM_001173990.3:c.217C>T MANE Select | NP_001167461.1:p.Arg73Cys | |
| NM_001173991.3:c.217C>T | NP_001167462.1:p.Arg73Cys | |
| NM_001330285.2:c.34C>T | NP_001317214.1:p.Arg12Cys | |
| NM_016499.6:c.34C>T | NP_057583.2:p.Arg12Cys |