Linked Data
ClinVar Variation Id:
322156
ClinVar RCV Id:
RCV000358118
dbSNP Id:
rs770280616
ExAC:
17:18051392 C / T
gnomAD v2:
17-18051392-C-T
gnomAD v4:
17-18148078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18148078C>T , CM000679.2:g.18148078C>T | GRCh38 |
| NC_000017.10:g.18051392C>T , CM000679.1:g.18051392C>T | GRCh37 |
| NC_000017.9:g.17992117C>T | NCBI36 |
| NG_011634.1:g.44373C>T | |
| NG_011634.2:g.44373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6559C>T MANE Select | ENSP00000495481.1:p.Arg2187Cys | |
| ENST00000205890.9:c.6559C>T | ENSP00000205890.5:p.Arg2187Cys | |
| ENST00000578999.1:n.144C>T | ||
| ENST00000615845.4:c.6559C>T | ENSP00000481642.1:p.Arg2187Cys | |
| NM_016239.3:c.6559C>T | NP_057323.3:p.Arg2187Cys | |
| XM_011523917.1:c.6499C>T | XP_011522219.1:p.Arg2167Cys | |
| XM_011523918.1:c.*38C>T | XP_011522220.1:n.*38C>T | |
| XM_011523921.1:c.6553C>T | XP_011522223.1:p.Arg2185Cys | |
| XR_934037.1:n.7158C>T | ||
| XR_934038.1:n.7158C>T | ||
| XR_934293.1:n.435-472G>A | ||
| XR_934295.1:n.254-472G>A | ||
| XM_011523918.2:c.*38C>T | XP_011522220.1:n.*38C>T | |
| XM_017024714.2:c.6499C>T | XP_016880203.1:p.Arg2167Cys | |
| XM_017024715.2:c.6562C>T | XP_016880204.1:p.Arg2188Cys | |
| XM_024450781.1:c.*38C>T | XP_024306549.1:n.*38C>T | |
| XR_934293.2:n.378-472G>A | ||
| NM_016239.4:c.6559C>T MANE Select | NP_057323.3:p.Arg2187Cys |