Linked Data
ClinVar Variation Id:
132116
ClinVar RCV Id:
RCV000118998
dbSNP Id:
rs515726190
gnomAD v2:
8-103231170-T-C
gnomAD v3:
8-102218942-T-C
gnomAD v4:
8-102218942-T-C
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218942T>C , CM000670.2:g.102218942T>C | GRCh38 |
| NC_000008.10:g.103231170T>C , CM000670.1:g.103231170T>C | GRCh37 |
| NC_000008.9:g.103300346T>C | NCBI36 |
| NG_016617.1:g.25177A>G , LRG_788:g.25177A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.556A>G MANE Select | ENSP00000251810.3:p.Arg186Gly | |
| ENST00000251810.7:c.556A>G | ENSP00000251810.3:p.Arg186Gly | |
| ENST00000395912.6:c.400A>G | ENSP00000379248.2:p.Arg134Gly | |
| ENST00000519125.1:n.74A>G | ||
| ENST00000519317.5:c.49-4784A>G | ENSP00000430641.1:n.49-4784A>G | |
| ENST00000519962.5:c.49-10657A>G | ENSP00000429140.1:n.49-10657A>G | |
| ENST00000522368.5:c.725A>G | ||
| ENST00000522394.1:c.123-6053A>G | ENSP00000429578.1:n.123-6053A>G | |
| ENST00000621845.1:c.394A>G | ENSP00000484318.1:p.Arg132Gly | |
| NM_001172477.1:c.772A>G , LRG_788t1:c.772A>G | NP_001165948.1:p.Arg258Gly | |
| NM_001172478.1:c.400A>G | NP_001165949.1:p.Arg134Gly | |
| NM_015713.4:c.556A>G , LRG_788t2:c.556A>G | NP_056528.2:p.Arg186Gly | |
| NM_001172478.2:c.400A>G | NP_001165949.1:p.Arg134Gly | |
| NM_015713.5:c.556A>G MANE Select | NP_056528.2:p.Arg186Gly |