Linked Data
ClinVar Variation Id:
1497269
ClinVar RCV Id:
RCV001992301
dbSNP Id:
rs1437389442
gnomAD v2:
8-11606586-C-T
gnomAD v4:
8-11749077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11749077C>T , CM000670.2:g.11749077C>T | GRCh38 |
| NC_000008.10:g.11606586C>T , CM000670.1:g.11606586C>T | GRCh37 |
| NC_000008.9:g.11643995C>T | NCBI36 |
| NG_008177.2:g.77159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.775C>T | ENSP00000482268.2:p.Arg259Cys | |
| ENST00000532059.6:c.778C>T MANE Select | ENSP00000435712.1:p.Arg260Cys | |
| ENST00000335135.8:c.775C>T | ENSP00000334458.4:p.Arg259Cys | |
| ENST00000526716.5:c.157C>T | ENSP00000435347.1:p.Arg53Cys | |
| ENST00000528712.5:c.157C>T | ENSP00000435043.1:p.Arg53Cys | |
| ENST00000532059.5:c.778C>T | ENSP00000435712.1:p.Arg260Cys | |
| ENST00000622443.2:c.772C>T | ENSP00000482268.1:p.Arg258Cys | |
| NM_001308093.1:c.778C>T | NP_001295022.1:p.Arg260Cys | |
| NM_001308094.1:c.157C>T | NP_001295023.1:p.Arg53Cys | |
| NM_002052.3:c.775C>T | NP_002043.2:p.Arg259Cys | |
| NM_002052.4:c.775C>T | NP_002043.2:p.Arg259Cys | |
| XM_005272385.3:c.778C>T | XP_005272442.1:p.Arg260Cys | |
| XM_005272386.1:c.778C>T | XP_005272443.1:p.Arg260Cys | |
| XM_006716248.1:c.778C>T | XP_006716311.1:p.Arg260Cys | |
| XM_011543817.1:c.778C>T | XP_011542119.1:p.Arg260Cys | |
| XM_011543818.1:c.778C>T | XP_011542120.1:p.Arg260Cys | |
| XM_005272385.4:c.778C>T | XP_005272442.1:p.Arg260Cys | |
| XM_011543817.3:c.778C>T | XP_011542119.1:p.Arg260Cys | |
| XM_011543818.2:c.778C>T | XP_011542120.1:p.Arg260Cys | |
| XM_017013312.2:c.778C>T | XP_016868801.1:p.Arg260Cys | |
| NM_001308093.3:c.778C>T MANE Select | NP_001295022.1:p.Arg260Cys | |
| NM_001308094.2:c.157C>T | NP_001295023.1:p.Arg53Cys | |
| NM_001374273.1:c.157C>T | NP_001361202.1:p.Arg53Cys | |
| NM_001374274.1:c.157C>T | NP_001361203.1:p.Arg53Cys | |
| NM_002052.5:c.775C>T | NP_002043.2:p.Arg259Cys |