Linked Data
ClinVar Variation Id:
462871
ClinVar RCV Id:
RCV000560893
dbSNP Id:
rs567167527
ExAC:
9:6553442 A / T
gnomAD v2:
9-6553442-A-T
gnomAD v3:
9-6553442-A-T
gnomAD v4:
9-6553442-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553442A>T , CM000671.2:g.6553442A>T | GRCh38 |
| NC_000009.11:g.6553442A>T , CM000671.1:g.6553442A>T | GRCh37 |
| NC_000009.10:g.6543442A>T | NCBI36 |
| NG_016397.1:g.97251T>A , LRG_643:g.97251T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2383T>A MANE Select | ENSP00000370737.4:p.Cys795Ser | |
| ENST00000638233.1:n.818T>A | ||
| ENST00000638661.1:c.583T>A | ENSP00000491369.1:p.Cys195Ser | |
| ENST00000638694.1:n.570T>A | ||
| ENST00000639318.1:c.583T>A | ENSP00000491932.1:p.Cys195Ser | |
| ENST00000639364.1:n.2083T>A | ||
| ENST00000639443.1:n.1951T>A | ||
| ENST00000639639.1:c.85T>A | ENSP00000491312.1:p.Cys29Ser | |
| ENST00000639954.1:n.2091T>A | ||
| ENST00000640505.1:n.622T>A | ||
| ENST00000321612.6:c.2383T>A | ENSP00000370737.3:p.Cys795Ser | |
| ENST00000467946.1:n.309T>A | ||
| NM_000170.2:c.2383T>A , LRG_643t1:c.2383T>A | NP_000161.2:p.Cys795Ser | |
| NM_000170.3:c.2383T>A MANE Select | NP_000161.2:p.Cys795Ser |