Linked Data
ClinVar Variation Id:
437117
dbSNP Id:
rs1135224
ExAC:
12:49579771 G / A
gnomAD v2:
12-49579771-G-A
gnomAD v3:
12-49185988-G-A
gnomAD v4:
12-49185988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185988G>A , CM000674.2:g.49185988G>A | GRCh38 |
| NC_000012.11:g.49579771G>A , CM000674.1:g.49579771G>A | GRCh37 |
| NC_000012.10:g.47866038G>A | NCBI36 |
| NG_008966.1:g.8091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.378C>T MANE Select | ENSP00000301071.7:p.Ala126= | |
| ENST00000547939.6:c.273C>T | ENSP00000450268.2:p.Ala91= | |
| ENST00000550767.6:c.273C>T | ENSP00000446637.1:p.Ala91= | |
| ENST00000550811.2:n.1411C>T | ||
| ENST00000552924.2:c.273C>T | ENSP00000448725.2:p.Ala91= | |
| ENST00000679733.1:c.401C>T | ENSP00000505459.1:p.Pro134Leu | |
| ENST00000295766.9:c.378C>T | ENSP00000439020.2:p.Ala126= | |
| ENST00000301071.11:c.378C>T | ENSP00000301071.7:p.Ala126= | |
| ENST00000546918.1:c.530C>T | ENSP00000446613.1:p.Pro177Leu | |
| ENST00000547939.5:c.273C>T | ENSP00000450268.1:p.Ala91= | |
| ENST00000550767.5:c.273C>T | ENSP00000446637.1:p.Ala91= | |
| ENST00000552924.1:c.273C>T | ENSP00000448725.1:p.Ala91= | |
| NM_001270399.1:c.378C>T | NP_001257328.1:p.Ala126= | |
| NM_001270400.1:c.273C>T | NP_001257329.1:p.Ala91= | |
| NM_006009.3:c.378C>T | NP_006000.2:p.Ala126= | |
| NM_006009.4:c.378C>T MANE Select | NP_006000.2:p.Ala126= | |
| NM_001270399.2:c.378C>T | NP_001257328.1:p.Ala126= | |
| NM_001270400.2:c.273C>T | NP_001257329.1:p.Ala91= |