Linked Data
ClinVar Variation Id:
1018961
ClinVar RCV Id:
RCV001318328
dbSNP Id:
rs200197273
ExAC:
5:89923208 C / T
gnomAD v2:
5-89923208-C-T
gnomAD v3:
5-90627391-C-T
gnomAD v4:
5-90627391-C-T
COSMIC:
COSM141903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627391C>T , CM000667.2:g.90627391C>T | GRCh38 |
| NC_000005.9:g.89923208C>T , CM000667.1:g.89923208C>T | GRCh37 |
| NC_000005.8:g.89958964C>T | NCBI36 |
| NG_007083.1:g.73592C>T | |
| NG_007083.2:g.103048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.853C>T MANE Select | ENSP00000384582.2:p.Arg285Cys | |
| ENST00000640083.1:n.558C>T | ||
| ENST00000640109.1:n.949C>T | ||
| ENST00000640281.1:n.912C>T | ||
| ENST00000405460.6:c.853C>T | ENSP00000384582.2:p.Arg285Cys | |
| NM_032119.3:c.853C>T | NP_115495.3:p.Arg285Cys | |
| NR_003149.1:n.949C>T | ||
| XM_011543675.1:c.853C>T | XP_011541977.1:p.Arg285Cys | |
| XM_011543676.1:c.853C>T | XP_011541978.1:p.Arg285Cys | |
| XM_011543678.1:c.853C>T | XP_011541980.1:p.Arg285Cys | |
| XM_011543679.1:c.853C>T | XP_011541981.1:p.Arg285Cys | |
| NM_032119.4:c.853C>T MANE Select | NP_115495.3:p.Arg285Cys | |
| XM_017009963.2:c.853C>T | XP_016865452.1:p.Arg285Cys | |
| XM_017009964.2:c.853C>T | XP_016865453.1:p.Arg285Cys | |
| XM_017009965.1:c.850C>T | XP_016865454.1:p.Arg284Cys | |
| XM_017009966.2:c.853C>T | XP_016865455.1:p.Arg285Cys | |
| XM_017009967.1:c.757C>T | XP_016865456.1:p.Arg253Cys | |
| XM_017009968.2:c.853C>T | XP_016865457.1:p.Arg285Cys | |
| XM_017009969.2:c.853C>T | XP_016865458.1:p.Arg285Cys | |
| XM_017009970.2:c.853C>T | XP_016865459.1:p.Arg285Cys | |
| XM_017009971.2:c.853C>T | XP_016865460.1:p.Arg285Cys | |
| XM_017009974.2:c.853C>T | XP_016865463.1:p.Arg285Cys | |
| NR_003149.2:n.952C>T |