Linked Data
ClinVar Variation Id:
1002346
ClinVar RCV Id:
RCV001298761
dbSNP Id:
rs1282664179
gnomAD v3:
16-10180132-G-A
gnomAD v4:
16-10180132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10180132G>A , CM000678.2:g.10180132G>A | GRCh38 |
| NC_000016.9:g.10273989G>A , CM000678.1:g.10273989G>A | GRCh37 |
| NC_000016.8:g.10181490G>A | NCBI36 |
| NG_011812.1:g.7623C>T | |
| NG_011812.2:g.7623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.280C>T MANE Select | ENSP00000332549.3:p.Arg94Cys | |
| ENST00000675189.1:n.764C>T | ||
| ENST00000675398.1:c.280C>T | ENSP00000502752.1:p.Arg94Cys | |
| ENST00000676032.1:n.713C>T | ||
| ENST00000330684.3:c.280C>T | ENSP00000332549.3:p.Arg94Cys | |
| ENST00000396573.6:c.280C>T | ENSP00000379818.2:p.Arg94Cys | |
| ENST00000562109.5:c.280C>T | ENSP00000454998.1:p.Arg94Cys | |
| ENST00000566665.1:n.681C>T | ||
| NM_000833.4:c.280C>T | NP_000824.1:p.Arg94Cys | |
| NM_001134407.2:c.280C>T | NP_001127879.1:p.Arg94Cys | |
| NM_001134408.2:c.280C>T | NP_001127880.1:p.Arg94Cys | |
| XM_011522461.1:c.280C>T | XP_011520763.1:p.Arg94Cys | |
| XM_011522461.3:c.280C>T | XP_011520763.1:p.Arg94Cys | |
| XM_017023172.1:c.436C>T | XP_016878661.1:p.Arg146Cys | |
| XM_017023173.1:c.436C>T | XP_016878662.1:p.Arg146Cys | |
| NM_001134407.3:c.280C>T MANE Select | NP_001127879.1:p.Arg94Cys | |
| NM_000833.5:c.280C>T | NP_000824.1:p.Arg94Cys |