Linked Data
ClinVar Variation Id:
739836
ClinVar RCV Id:
RCV000915845
dbSNP Id:
rs568517935
ExAC:
11:118899996 G / C
gnomAD v2:
11-118899996-G-C
gnomAD v3:
11-119029286-G-C
gnomAD v4:
11-119029286-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029286G>C , CM000673.2:g.119029286G>C | GRCh38 |
| NC_000011.9:g.118899996G>C , CM000673.1:g.118899996G>C | GRCh37 |
| NC_000011.8:g.118405206G>C | NCBI36 |
| NG_013331.1:g.6621C>G , LRG_187:g.6621C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.313C>G | ||
| ENST00000697846.1:n.313C>G | ||
| ENST00000697847.1:n.313C>G | ||
| ENST00000697848.1:n.313C>G | ||
| ENST00000697849.1:n.557C>G | ||
| ENST00000697850.1:n.313C>G | ||
| ENST00000697851.1:n.557C>G | ||
| ENST00000638186.1:n.387C>G | ||
| ENST00000638360.1:n.321C>G | ||
| ENST00000638925.1:n.320C>G | ||
| ENST00000650539.1:n.489C>G | ||
| ENST00000330775.9:c.84C>G | ENSP00000476242.2:p.Arg28= | |
| ENST00000357590.9:c.84C>G | ENSP00000476176.2:p.Arg28= | |
| ENST00000524428.5:n.84C>G | ||
| ENST00000525039.5:n.507C>G | ||
| ENST00000525102.5:n.841C>G | ||
| ENST00000525372.5:n.84C>G | ||
| ENST00000525787.1:n.379C>G | ||
| ENST00000526626.6:n.279C>G | ||
| ENST00000527992.5:n.311C>G | ||
| ENST00000529510.5:n.102C>G | ||
| ENST00000530407.5:n.197+106C>G | ||
| ENST00000532085.1:n.1578C>G | ||
| ENST00000532888.6:n.279C>G | ||
| ENST00000534384.1:n.304C>G | ||
| ENST00000538950.5:c.-172+106C>G | ENSP00000475991.2:n.-172+106C>G | |
| ENST00000545985.5:c.84C>G | ENSP00000475241.2:p.Arg28= | |
| NM_001164277.1:c.84C>G , LRG_187t1:c.84C>G | NP_001157749.1:p.Arg28= | |
| NM_001164278.1:c.84C>G | NP_001157750.1:p.Arg28= | |
| NM_001164279.1:c.-172+106C>G | NP_001157751.1:n.-172+106C>G | |
| NM_001164280.1:c.84C>G | NP_001157752.1:p.Arg28= | |
| NM_001467.5:c.84C>G | NP_001458.1:p.Arg28= | |
| NM_001164278.2:c.84C>G | NP_001157750.1:p.Arg28= | |
| NM_001164279.2:c.-172+106C>G | NP_001157751.1:n.-172+106C>G | |
| NM_001164280.2:c.84C>G | NP_001157752.1:p.Arg28= | |
| NM_001467.6:c.84C>G | NP_001458.1:p.Arg28= | |
| NM_001164277.2:c.84C>G MANE Select | NP_001157749.1:p.Arg28= |