Linked Data
ClinVar Variation Id:
425884
ClinVar RCV Id:
RCV000488820
dbSNP Id:
rs1085307306
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532612G>C , CM000664.2:g.202532612G>C | GRCh38 |
| NC_000002.11:g.203397335G>C , CM000664.1:g.203397335G>C | GRCh37 |
| NC_000002.10:g.203105580G>C | NCBI36 |
| NG_009363.1:g.161286G>C , LRG_712:g.161286G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1156G>C MANE Select | ENSP00000363708.4:p.Glu386Gln | |
| ENST00000638587.1:c.1087G>C | ENSP00000491062.1:p.Glu363Gln | |
| ENST00000374574.2:c.1156G>C | ENSP00000363702.2:p.Glu386Gln | |
| ENST00000374580.8:c.1156G>C | ENSP00000363708.4:p.Glu386Gln | |
| NM_001204.6:c.1156G>C , LRG_712t1:c.1156G>C | NP_001195.2:p.Glu386Gln | |
| XM_011511687.1:c.1156G>C | XP_011509989.1:p.Glu386Gln | |
| XM_011511688.1:c.1156G>C | XP_011509990.1:p.Glu386Gln | |
| NM_001204.7:c.1156G>C MANE Select | NP_001195.2:p.Glu386Gln |