Linked Data
ClinVar Variation Id:
513638
dbSNP Id:
rs367632910
ExAC:
12:49580258 G / C
gnomAD v2:
12-49580258-G-C
gnomAD v3:
12-49186475-G-C
gnomAD v4:
12-49186475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49186475G>C , CM000674.2:g.49186475G>C | GRCh38 |
| NC_000012.11:g.49580258G>C , CM000674.1:g.49580258G>C | GRCh37 |
| NC_000012.10:g.47866525G>C | NCBI36 |
| NG_008966.1:g.7604C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.227-17C>G MANE Select | ENSP00000301071.7:n.227-17C>G | |
| ENST00000547939.6:c.122-17C>G | ENSP00000450268.2:n.122-17C>G | |
| ENST00000550767.6:c.122-17C>G | ENSP00000446637.1:n.122-17C>G | |
| ENST00000550811.2:n.1260-17C>G | ||
| ENST00000552924.2:c.122-17C>G | ENSP00000448725.2:n.122-17C>G | |
| ENST00000679733.1:c.250-17C>G | ENSP00000505459.1:n.250-17C>G | |
| ENST00000295766.9:c.227-17C>G | ENSP00000439020.2:n.227-17C>G | |
| ENST00000301071.11:c.227-17C>G | ENSP00000301071.7:n.227-17C>G | |
| ENST00000546918.1:c.362C>G | ENSP00000446613.1:p.Pro121Arg | |
| ENST00000547939.5:c.122-17C>G | ENSP00000450268.1:n.122-17C>G | |
| ENST00000548363.1:n.231-17C>G | ||
| ENST00000550254.1:n.384C>G | ||
| ENST00000550767.5:c.122-17C>G | ENSP00000446637.1:n.122-17C>G | |
| ENST00000552924.1:c.122-17C>G | ENSP00000448725.1:n.122-17C>G | |
| NM_001270399.1:c.227-17C>G | NP_001257328.1:n.227-17C>G | |
| NM_001270400.1:c.122-17C>G | NP_001257329.1:n.122-17C>G | |
| NM_006009.3:c.227-17C>G | NP_006000.2:n.227-17C>G | |
| NM_006009.4:c.227-17C>G MANE Select | NP_006000.2:n.227-17C>G | |
| NM_001270399.2:c.227-17C>G | NP_001257328.1:n.227-17C>G | |
| NM_001270400.2:c.122-17C>G | NP_001257329.1:n.122-17C>G |