Linked Data
ClinVar Variation Id:
198304
dbSNP Id:
rs138908576
ExAC:
5:90070066 C / T
gnomAD v2:
5-90070066-C-T
gnomAD v3:
5-90774249-C-T
gnomAD v4:
5-90774249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90774249C>T , CM000667.2:g.90774249C>T | GRCh38 |
| NC_000005.9:g.90070066C>T , CM000667.1:g.90070066C>T | GRCh37 |
| NC_000005.8:g.90105822C>T | NCBI36 |
| NG_007083.1:g.220450C>T | |
| NG_007083.2:g.249906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12349C>T MANE Select | ENSP00000384582.2:p.Arg4117Cys | |
| ENST00000425867.3:c.1303C>T | ENSP00000392618.3:p.Arg435Cys | |
| ENST00000639431.1:c.265+98040C>T | ENSP00000491057.1:n.265+98040C>T | |
| ENST00000640464.1:n.2768C>T | ||
| ENST00000640729.1:n.926C>T | ||
| ENST00000405460.6:c.12349C>T | ENSP00000384582.2:p.Arg4117Cys | |
| NM_032119.3:c.12349C>T | NP_115495.3:p.Arg4117Cys | |
| NR_003149.1:n.12362C>T | ||
| XM_011543675.1:c.12346C>T | XP_011541977.1:p.Arg4116Cys | |
| XM_011543676.1:c.12268C>T | XP_011541978.1:p.Arg4090Cys | |
| XM_011543677.1:c.9652C>T | XP_011541979.1:p.Arg3218Cys | |
| XM_011543678.1:c.12349C>T | XP_011541980.1:p.Arg4117Cys | |
| NM_032119.4:c.12349C>T MANE Select | NP_115495.3:p.Arg4117Cys | |
| XM_017009963.2:c.12370C>T | XP_016865452.1:p.Arg4124Cys | |
| XM_017009964.2:c.12367C>T | XP_016865453.1:p.Arg4123Cys | |
| XM_017009965.1:c.12367C>T | XP_016865454.1:p.Arg4123Cys | |
| XM_017009966.2:c.12289C>T | XP_016865455.1:p.Arg4097Cys | |
| XM_017009967.1:c.12274C>T | XP_016865456.1:p.Arg4092Cys | |
| XM_017009968.2:c.12370C>T | XP_016865457.1:p.Arg4124Cys | |
| XM_017009969.2:c.12370C>T | XP_016865458.1:p.Arg4124Cys | |
| XM_017009970.2:c.12370C>T | XP_016865459.1:p.Arg4124Cys | |
| XM_017009971.2:c.12370C>T | XP_016865460.1:p.Arg4124Cys | |
| XM_017009972.1:c.5488C>T | XP_016865461.1:p.Arg1830Cys | |
| XM_017009973.1:c.5467C>T | XP_016865462.1:p.Arg1823Cys | |
| NR_003149.2:n.12365C>T |