Linked Data
ClinVar Variation Id:
56094
ClinVar RCV Id:
RCV000049503
dbSNP Id:
rs386833576
gnomAD v4:
9-6620259-G-C
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620259G>C , CM000671.2:g.6620259G>C | GRCh38 |
| NC_000009.11:g.6620259G>C , CM000671.1:g.6620259G>C | GRCh37 |
| NC_000009.10:g.6610259G>C | NCBI36 |
| NG_016397.1:g.30434C>G , LRG_643:g.30434C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.395C>G MANE Select | ENSP00000370737.4:p.Ser132Trp | |
| ENST00000639020.1:c.-11C>G | ENSP00000491392.1:n.-11C>G | |
| ENST00000639364.1:n.95C>G | ||
| ENST00000639840.1:c.101C>G | ENSP00000491161.1:p.Ser34Trp | |
| ENST00000639954.1:n.179-9903C>G | ||
| ENST00000640592.1:n.278C>G | ||
| ENST00000321612.6:c.395C>G | ENSP00000370737.3:p.Ser132Trp | |
| NM_000170.2:c.395C>G , LRG_643t1:c.395C>G | NP_000161.2:p.Ser132Trp | |
| NM_000170.3:c.395C>G MANE Select | NP_000161.2:p.Ser132Trp |