Linked Data
ClinVar Variation Id:
56102
ClinVar RCV Id:
RCV000049511
dbSNP Id:
rs386833585
gnomAD v2:
9-6606599-G-A
gnomAD v3:
9-6606599-G-A
gnomAD v4:
9-6606599-G-A
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6606599G>A , CM000671.2:g.6606599G>A | GRCh38 |
| NC_000009.11:g.6606599G>A , CM000671.1:g.6606599G>A | GRCh37 |
| NC_000009.10:g.6596599G>A | NCBI36 |
| NG_016397.1:g.44094C>T , LRG_643:g.44094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.706C>T MANE Select | ENSP00000370737.4:p.Arg236Ter | |
| ENST00000639364.1:n.406C>T | ||
| ENST00000639840.1:c.412C>T | ENSP00000491161.1:p.Arg138Ter | |
| ENST00000639954.1:n.414C>T | ||
| ENST00000640592.1:n.589C>T | ||
| ENST00000321612.6:c.706C>T | ENSP00000370737.3:p.Arg236Ter | |
| NM_000170.2:c.706C>T , LRG_643t1:c.706C>T | NP_000161.2:p.Arg236Ter | |
| NM_000170.3:c.706C>T MANE Select | NP_000161.2:p.Arg236Ter |