Linked Data
ClinVar Variation Id:
459865
dbSNP Id:
rs372620412
ExAC:
2:73677381 G / C
gnomAD v2:
2-73677381-G-C
gnomAD v3:
2-73450254-G-C
gnomAD v4:
2-73450254-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450254G>C , CM000664.2:g.73450254G>C | GRCh38 |
| NC_000002.11:g.73677381G>C , CM000664.1:g.73677381G>C | GRCh37 |
| NC_000002.10:g.73530889G>C | NCBI36 |
| NG_011690.1:g.69502G>C , LRG_741:g.69502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3346G>C | ENSP00000507671.1:p.Glu1116Gln | |
| ENST00000682801.1:c.3346G>C | ENSP00000507862.1:p.Glu1116Gln | |
| ENST00000682859.1:c.3346G>C | ENSP00000508222.1:p.Glu1116Gln | |
| ENST00000683791.1:c.685+17963G>C | ||
| ENST00000684460.1:c.798G>C | ||
| ENST00000684548.1:c.3346G>C | ENSP00000507421.1:p.Glu1116Gln | |
| ENST00000684656.1:c.798G>C | ||
| ENST00000613296.6:c.3727G>C MANE Select | ENSP00000482968.1:p.Glu1243Gln | |
| ENST00000484298.5:c.3601G>C | ENSP00000478155.1:p.Glu1201Gln | |
| ENST00000613296.4:c.3727G>C | ENSP00000482968.1:p.Glu1243Gln | |
| ENST00000614410.4:c.3727G>C | ENSP00000479094.1:p.Glu1243Gln | |
| NM_015120.4:c.3730G>C , LRG_741t1:c.3730G>C | NP_055935.4:p.Glu1244Gln | |
| NM_001378454.1:c.3727G>C MANE Select | NP_001365383.1:p.Glu1243Gln |