Linked Data
ClinVar Variation Id:
212492
dbSNP Id:
rs765483435
ExAC:
12:49580195 T / C
gnomAD v2:
12-49580195-T-C
gnomAD v3:
12-49186412-T-C
gnomAD v4:
12-49186412-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49186412T>C , CM000674.2:g.49186412T>C | GRCh38 |
| NC_000012.11:g.49580195T>C , CM000674.1:g.49580195T>C | GRCh37 |
| NC_000012.10:g.47866462T>C | NCBI36 |
| NG_008966.1:g.7667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.273A>G MANE Select | ENSP00000301071.7:p.Gln91= | |
| ENST00000547939.6:c.168A>G | ENSP00000450268.2:p.Gln56= | |
| ENST00000550767.6:c.168A>G | ENSP00000446637.1:p.Gln56= | |
| ENST00000550811.2:n.1306A>G | ||
| ENST00000552924.2:c.168A>G | ENSP00000448725.2:p.Gln56= | |
| ENST00000679733.1:c.296A>G | ENSP00000505459.1:p.Asn99Ser | |
| ENST00000295766.9:c.273A>G | ENSP00000439020.2:p.Gln91= | |
| ENST00000301071.11:c.273A>G | ENSP00000301071.7:p.Gln91= | |
| ENST00000546918.1:c.425A>G | ENSP00000446613.1:p.Asn142Ser | |
| ENST00000547939.5:c.168A>G | ENSP00000450268.1:p.Gln56= | |
| ENST00000548363.1:n.277A>G | ||
| ENST00000550254.1:n.447A>G | ||
| ENST00000550767.5:c.168A>G | ENSP00000446637.1:p.Gln56= | |
| ENST00000552924.1:c.168A>G | ENSP00000448725.1:p.Gln56= | |
| NM_001270399.1:c.273A>G | NP_001257328.1:p.Gln91= | |
| NM_001270400.1:c.168A>G | NP_001257329.1:p.Gln56= | |
| NM_006009.3:c.273A>G | NP_006000.2:p.Gln91= | |
| NM_006009.4:c.273A>G MANE Select | NP_006000.2:p.Gln91= | |
| NM_001270399.2:c.273A>G | NP_001257328.1:p.Gln91= | |
| NM_001270400.2:c.168A>G | NP_001257329.1:p.Gln56= |