Linked Data
ClinVar Variation Id:
30057
ClinVar RCV Id:
RCV000022959
dbSNP Id:
rs387906746
PubMed:
PMID:21378985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916100G>A , CM000663.2:g.119916100G>A | GRCh38 |
| NC_000001.10:g.120458723G>A , CM000663.1:g.120458723G>A | GRCh37 |
| NC_000001.9:g.120260246G>A | NCBI36 |
| NG_008163.1:g.158554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.6622C>T MANE Select | ENSP00000256646.2:p.Gln2208Ter | |
| ENST00000256646.6:c.6622C>T | ENSP00000256646.2:p.Gln2208Ter | |
| NM_024408.3:c.6622C>T | NP_077719.2:p.Gln2208Ter | |
| XM_005270901.2:c.6505C>T | XP_005270958.1:p.Gln2169Ter | |
| XM_011541519.1:c.6610C>T | XP_011539821.1:p.Gln2204Ter | |
| XM_011541520.1:c.6505C>T | XP_011539822.1:p.Gln2169Ter | |
| NM_024408.4:c.6622C>T MANE Select | NP_077719.2:p.Gln2208Ter |