Linked Data
ClinVar Variation Id:
30267
ClinVar RCV Id:
RCV001787029
dbSNP Id:
rs387906839
gnomAD v2:
11-70052267-T-G
gnomAD v4:
11-70206161-T-G
PubMed:
PMID:21109225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206161T>G , CM000673.2:g.70206161T>G | GRCh38 |
| NC_000011.9:g.70052267T>G , CM000673.1:g.70052267T>G | GRCh37 |
| NC_000011.8:g.69729915T>G | NCBI36 |
| NG_027966.1:g.7999T>G , LRG_228:g.7999T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301838.5:c.315T>G MANE Select | ENSP00000301838.5:p.Cys105Trp | |
| ENST00000301838.4:c.315T>G | ENSP00000301838.4:p.Cys105Trp | |
| NM_003824.3:c.315T>G , LRG_228t1:c.315T>G | NP_003815.1:p.Cys105Trp | |
| NM_003824.4:c.315T>G MANE Select | NP_003815.1:p.Cys105Trp |