Linked Data
ClinVar Variation Id:
225529
ClinVar RCV Id:
RCV000210913
dbSNP Id:
rs879253738
gnomAD v2:
2-174231032-C-T
gnomAD v4:
2-173366304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366304C>T , CM000664.2:g.173366304C>T | GRCh38 |
| NC_000002.11:g.174231032C>T , CM000664.1:g.174231032C>T | GRCh37 |
| NC_000002.10:g.173939278C>T | NCBI36 |
| NG_047202.1:g.17288C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695901.1:c.798+712C>T | ENSP00000512251.1:n.798+712C>T | |
| ENST00000695911.1:c.835C>T | ENSP00000512262.1:n.835C>T | |
| ENST00000695912.1:c.1054C>T | ENSP00000512263.1:p.Arg352Cys | |
| ENST00000695913.1:c.*1810C>T | ENSP00000512264.1:n.*1810C>T | |
| ENST00000695914.1:c.817C>T | ENSP00000512265.1:p.Arg273Cys | |
| ENST00000695918.1:n.285C>T | ||
| ENST00000306721.8:c.1057C>T MANE Select | ENSP00000306968.3:p.Arg353Cys | |
| ENST00000306721.7:c.1057C>T | ENSP00000306968.3:p.Arg353Cys | |
| ENST00000347703.7:c.820C>T | ENSP00000272789.4:p.Arg274Cys | |
| ENST00000410019.3:c.694C>T | ENSP00000386833.3:p.Arg232Cys | |
| ENST00000410101.7:c.925C>T | ENSP00000386656.3:p.Arg309Cys | |
| ENST00000467411.5:n.1768+712C>T | ||
| ENST00000496441.5:n.1811C>T | ||
| NM_031942.4:c.1057C>T | NP_114148.3:p.Arg353Cys | |
| NM_145810.2:c.820C>T | NP_665809.1:p.Arg274Cys | |
| XM_011511957.1:c.976C>T | XP_011510259.1:p.Arg326Cys | |
| XR_923034.1:n.1955C>T | ||
| NM_031942.5:c.1057C>T MANE Select | NP_114148.3:p.Arg353Cys | |
| NM_145810.3:c.820C>T | NP_665809.1:p.Arg274Cys |