Linked Data
ClinVar Variation Id:
97879
dbSNP Id:
rs104895422
ExAC:
16:50744525 C / T
gnomAD v2:
16-50744525-C-T
gnomAD v3:
16-50710614-C-T
gnomAD v4:
16-50710614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710614C>T , CM000678.2:g.50710614C>T | GRCh38 |
| NC_000016.9:g.50744525C>T , CM000678.1:g.50744525C>T | GRCh37 |
| NC_000016.8:g.49302026C>T | NCBI36 |
| NG_007508.1:g.18476C>T , LRG_177:g.18476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.622C>T | ENSP00000493088.1:p.Arg208Cys | |
| ENST00000646677.2:c.622C>T | ENSP00000496533.1:p.Arg208Cys | |
| ENST00000641284.1:c.622C>T | ENSP00000493088.1:p.Arg208Cys | |
| ENST00000646677.1:c.622C>T | ENSP00000496533.1:p.Arg208Cys | |
| ENST00000647318.2:c.622C>T MANE Select | ENSP00000495993.1:p.Arg208Cys | |
| ENST00000300589.6:c.703C>T | ENSP00000300589.2:p.Arg235Cys | |
| ENST00000526417.6:n.763C>T | ||
| ENST00000527070.5:c.*1318C>T | ENSP00000435149.1:n.*1318C>T | |
| ENST00000532206.1:n.701C>T | ||
| NM_001293557.1:c.622C>T | NP_001280486.1:p.Arg208Cys | |
| NM_022162.2:c.703C>T | NP_071445.1:p.Arg235Cys | |
| XM_005256084.2:c.622C>T | XP_005256141.1:p.Arg208Cys | |
| XM_006721242.2:c.622C>T | XP_006721305.1:p.Arg208Cys | |
| XM_006721243.2:c.622C>T | XP_006721306.1:p.Arg208Cys | |
| XM_011523257.1:c.199C>T | XP_011521559.1:p.Arg67Cys | |
| XM_011523258.1:c.199C>T | XP_011521560.1:p.Arg67Cys | |
| XM_011523259.1:c.37C>T | XP_011521561.1:p.Arg13Cys | |
| XM_011523260.1:c.622C>T | XP_011521562.1:p.Arg208Cys | |
| XM_011523261.1:c.622C>T | XP_011521563.1:p.Arg208Cys | |
| XR_429725.2:n.712C>T | ||
| XR_429726.2:n.712C>T | ||
| XR_933387.1:n.712C>T | ||
| XM_005256084.4:c.622C>T | XP_005256141.1:p.Arg208Cys | |
| XM_006721242.4:c.622C>T | XP_006721305.1:p.Arg208Cys | |
| XM_006721243.4:c.622C>T | XP_006721306.1:p.Arg208Cys | |
| XM_011523259.2:c.37C>T | XP_011521561.1:p.Arg13Cys | |
| XM_011523260.3:c.622C>T | XP_011521562.1:p.Arg208Cys | |
| XM_011523261.2:c.622C>T | XP_011521563.1:p.Arg208Cys | |
| XM_017023535.1:c.130C>T | XP_016879024.1:p.Arg44Cys | |
| XM_017023536.1:c.37C>T | XP_016879025.1:p.Arg13Cys | |
| XM_017023537.1:c.37C>T | XP_016879026.1:p.Arg13Cys | |
| XM_017023538.1:c.37C>T | XP_016879027.1:p.Arg13Cys | |
| XR_429725.3:n.665C>T | ||
| XR_429726.3:n.665C>T | ||
| XR_933387.2:n.665C>T | ||
| NM_001293557.2:c.622C>T | NP_001280486.1:p.Arg208Cys | |
| NM_001370466.1:c.622C>T MANE Select | NP_001357395.1:p.Arg208Cys | |
| NM_022162.3:c.703C>T | NP_071445.1:p.Arg235Cys | |
| NR_163434.1:n.687C>T |