Linked Data
dbSNP Id:
rs745462580
ExAC:
12:49579762 G / A
gnomAD v2:
12-49579762-G-A
gnomAD v4:
12-49185979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185979G>A , CM000674.2:g.49185979G>A | GRCh38 |
| NC_000012.11:g.49579762G>A , CM000674.1:g.49579762G>A | GRCh37 |
| NC_000012.10:g.47866029G>A | NCBI36 |
| NG_008966.1:g.8100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.387C>T MANE Select | ENSP00000301071.7:p.Cys129= | |
| ENST00000547939.6:c.282C>T | ENSP00000450268.2:p.Cys94= | |
| ENST00000550767.6:c.282C>T | ENSP00000446637.1:p.Cys94= | |
| ENST00000550811.2:n.1420C>T | ||
| ENST00000552924.2:c.282C>T | ENSP00000448725.2:p.Cys94= | |
| ENST00000679733.1:c.410C>T | ENSP00000505459.1:p.Ala137Val | |
| ENST00000295766.9:c.387C>T | ENSP00000439020.2:p.Cys129= | |
| ENST00000301071.11:c.387C>T | ENSP00000301071.7:p.Cys129= | |
| ENST00000546918.1:c.539C>T | ENSP00000446613.1:p.Ala180Val | |
| ENST00000547939.5:c.282C>T | ENSP00000450268.1:p.Cys94= | |
| ENST00000550767.5:c.282C>T | ENSP00000446637.1:p.Cys94= | |
| ENST00000552924.1:c.282C>T | ENSP00000448725.1:p.Cys94= | |
| NM_001270399.1:c.387C>T | NP_001257328.1:p.Cys129= | |
| NM_001270400.1:c.282C>T | NP_001257329.1:p.Cys94= | |
| NM_006009.3:c.387C>T | NP_006000.2:p.Cys129= | |
| NM_006009.4:c.387C>T MANE Select | NP_006000.2:p.Cys129= | |
| NM_001270399.2:c.387C>T | NP_001257328.1:p.Cys129= | |
| NM_001270400.2:c.282C>T | NP_001257329.1:p.Cys94= |