Linked Data
ClinVar Variation Id:
2364193
ClinVar RCV Id:
RCV004206370
dbSNP Id:
rs1784352272
gnomAD v3:
5-177091087-C-T
gnomAD v4:
5-177091087-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177091087C>T , CM000667.2:g.177091087C>T | GRCh38 |
| NC_000005.9:g.176518088C>T , CM000667.1:g.176518088C>T | GRCh37 |
| NC_000005.8:g.176450694C>T | NCBI36 |
| NG_012067.1:g.9168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.586C>T MANE Select | ENSP00000292408.4:p.Arg196Cys | |
| ENST00000292408.8:c.586C>T | ENSP00000292408.4:p.Arg196Cys | |
| ENST00000393637.5:c.586C>T | ENSP00000377254.1:p.Arg196Cys | |
| ENST00000393648.6:c.586C>T | ENSP00000377259.2:p.Arg196Cys | |
| ENST00000426612.5:n.703C>T | ||
| ENST00000430285.5:c.*450C>T | ENSP00000395164.1:n.*450C>T | |
| ENST00000502906.5:c.586C>T | ENSP00000424960.1:p.Arg196Cys | |
| ENST00000503708.5:c.586C>T | ENSP00000424905.1:p.Arg196Cys | |
| ENST00000509511.5:n.586C>T | ||
| NM_001291980.1:c.586C>T | NP_001278909.1:p.Arg196Cys | |
| NM_002011.4:c.586C>T | NP_002002.3:p.Arg196Cys | |
| NM_022963.3:c.586C>T | NP_075252.2:p.Arg196Cys | |
| NM_213647.2:c.586C>T | NP_998812.1:p.Arg196Cys | |
| XM_005265838.2:c.586C>T | XP_005265895.1:p.Arg196Cys | |
| XM_011534464.1:c.679C>T | XP_011532766.1:p.Arg227Cys | |
| XM_011534465.1:c.268C>T | XP_011532767.1:p.Arg90Cys | |
| XR_941090.1:n.631C>T | ||
| NM_001354984.1:c.586C>T | NP_001341913.1:p.Arg196Cys | |
| NM_213647.3:c.586C>T MANE Select | NP_998812.1:p.Arg196Cys | |
| NM_001291980.2:c.586C>T | NP_001278909.1:p.Arg196Cys | |
| NM_001354984.2:c.586C>T | NP_001341913.1:p.Arg196Cys | |
| NM_002011.5:c.586C>T | NP_002002.3:p.Arg196Cys |