Linked Data
ClinVar Variation Id:
56040
ClinVar RCV Id:
RCV000049449
dbSNP Id:
rs386833521
ExAC:
9:6592982 G / A
gnomAD v2:
9-6592982-G-A
gnomAD v3:
9-6592982-G-A
gnomAD v4:
9-6592982-G-A
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592982G>A , CM000671.2:g.6592982G>A | GRCh38 |
| NC_000009.11:g.6592982G>A , CM000671.1:g.6592982G>A | GRCh37 |
| NC_000009.10:g.6582982G>A | NCBI36 |
| NG_016397.1:g.57711C>T , LRG_643:g.57711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1270C>T MANE Select | ENSP00000370737.4:p.Arg424Ter | |
| ENST00000639364.1:n.970C>T | ||
| ENST00000639443.1:n.838C>T | ||
| ENST00000639493.1:n.422C>T | ||
| ENST00000639954.1:n.978C>T | ||
| ENST00000640592.1:n.1153C>T | ||
| ENST00000640703.1:n.113C>T | ||
| ENST00000321612.6:c.1270C>T | ENSP00000370737.3:p.Arg424Ter | |
| ENST00000463305.1:n.354C>T | ||
| NM_000170.2:c.1270C>T , LRG_643t1:c.1270C>T | NP_000161.2:p.Arg424Ter | |
| NM_000170.3:c.1270C>T MANE Select | NP_000161.2:p.Arg424Ter |