Linked Data
ClinVar Variation Id:
1051964
ClinVar RCV Id:
RCV001360074
dbSNP Id:
rs1262702313
gnomAD v2:
16-9857167-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763310A>G , CM000678.2:g.9763310A>G | GRCh38 |
| NC_000016.9:g.9857167A>G , CM000678.1:g.9857167A>G | GRCh37 |
| NC_000016.8:g.9764668A>G | NCBI36 |
| NG_011812.1:g.424445T>C | |
| NG_011812.2:g.424445T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4234T>C MANE Select | ENSP00000332549.3:p.Cys1412Arg | |
| ENST00000535259.6:c.*45T>C | ENSP00000441572.3:n.*45T>C | |
| ENST00000636273.2:n.3484T>C | ||
| ENST00000674742.1:c.3763T>C | ENSP00000502200.1:p.Cys1255Arg | |
| ENST00000675398.1:c.*1604T>C | ENSP00000502752.1:n.*1604T>C | |
| ENST00000330684.3:c.4234T>C | ENSP00000332549.3:p.Cys1412Arg | |
| ENST00000396573.6:c.4234T>C | ENSP00000379818.2:p.Cys1412Arg | |
| ENST00000396575.6:c.3823T>C | ENSP00000379820.3:p.Cys1275Arg | |
| ENST00000461292.3:n.3530T>C | ||
| ENST00000535259.5:c.*45T>C | ENSP00000441572.2:n.*45T>C | |
| ENST00000562109.5:c.*45T>C | ENSP00000454998.1:n.*45T>C | |
| NM_000833.4:c.4234T>C | NP_000824.1:p.Cys1412Arg | |
| NM_001134407.2:c.4234T>C | NP_001127879.1:p.Cys1412Arg | |
| NM_001134408.2:c.*45T>C | NP_001127880.1:n.*45T>C | |
| XM_011522456.1:c.4075T>C | XP_011520758.1:p.Cys1359Arg | |
| XM_011522457.1:c.3976T>C | XP_011520759.1:p.Cys1326Arg | |
| XM_011522458.1:c.3763T>C | XP_011520760.1:p.Cys1255Arg | |
| XM_011522459.1:c.3763T>C | XP_011520761.1:p.Cys1255Arg | |
| XM_011522460.1:c.3763T>C | XP_011520762.1:p.Cys1255Arg | |
| XM_011522461.1:c.*45T>C | XP_011520763.1:n.*45T>C | |
| XM_011522458.3:c.3763T>C | XP_011520760.1:p.Cys1255Arg | |
| XM_011522461.3:c.*45T>C | XP_011520763.1:n.*45T>C | |
| XM_017023172.1:c.4390T>C | XP_016878661.1:p.Cys1464Arg | |
| XM_017023173.1:c.*45T>C | XP_016878662.1:n.*45T>C | |
| NM_001134407.3:c.4234T>C MANE Select | NP_001127879.1:p.Cys1412Arg | |
| NM_000833.5:c.4234T>C | NP_000824.1:p.Cys1412Arg |