Linked Data
ClinVar Variation Id:
11159
ClinVar RCV Id:
RCV000011909
dbSNP Id:
rs104894768
PubMed:
PMID:7679801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659309G>T , CM000685.2:g.136659309G>T | GRCh38 |
| NC_000023.10:g.135741468G>T , CM000685.1:g.135741468G>T | GRCh37 |
| NC_000023.9:g.135569134G>T | NCBI36 |
| NG_007280.1:g.16133G>T , LRG_141:g.16133G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*298G>T | ENSP00000512122.1:n.*298G>T | |
| ENST00000695725.1:c.*235G>T | ENSP00000512123.1:n.*235G>T | |
| ENST00000695726.1:n.2648G>T | ||
| ENST00000695729.1:n.3483G>T | ||
| ENST00000370629.7:c.680G>T MANE Select | ENSP00000359663.2:p.Gly227Val | |
| ENST00000370628.2:c.617G>T | ENSP00000359662.2:p.Gly206Val | |
| ENST00000370629.6:c.680G>T | ENSP00000359663.2:p.Gly227Val | |
| NM_000074.2:c.680G>T , LRG_141t1:c.680G>T | NP_000065.1:p.Gly227Val | |
| NM_000074.3:c.680G>T MANE Select | NP_000065.1:p.Gly227Val |