Linked Data
ClinVar Variation Id:
137850
dbSNP Id:
rs61730859
ExAC:
12:49579627 C / T
gnomAD v2:
12-49579627-C-T
gnomAD v3:
12-49185844-C-T
gnomAD v4:
12-49185844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185844C>T , CM000674.2:g.49185844C>T | GRCh38 |
| NC_000012.11:g.49579627C>T , CM000674.1:g.49579627C>T | GRCh37 |
| NC_000012.10:g.47865894C>T | NCBI36 |
| NG_008966.1:g.8235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.522G>A MANE Select | ENSP00000301071.7:p.Ala174= | |
| ENST00000547939.6:c.417G>A | ENSP00000450268.2:p.Ala139= | |
| ENST00000550767.6:c.417G>A | ENSP00000446637.1:p.Ala139= | |
| ENST00000550811.2:n.1555G>A | ||
| ENST00000552924.2:c.417G>A | ENSP00000448725.2:p.Ala139= | |
| ENST00000679733.1:c.545G>A | ENSP00000505459.1:p.Arg182His | |
| ENST00000295766.9:c.522G>A | ENSP00000439020.2:p.Ala174= | |
| ENST00000301071.11:c.522G>A | ENSP00000301071.7:p.Ala174= | |
| ENST00000546918.1:c.674G>A | ENSP00000446613.1:p.Arg225His | |
| ENST00000547939.5:c.417G>A | ENSP00000450268.1:p.Ala139= | |
| ENST00000550767.5:c.417G>A | ENSP00000446637.1:p.Ala139= | |
| NM_001270399.1:c.522G>A | NP_001257328.1:p.Ala174= | |
| NM_001270400.1:c.417G>A | NP_001257329.1:p.Ala139= | |
| NM_006009.3:c.522G>A | NP_006000.2:p.Ala174= | |
| NM_006009.4:c.522G>A MANE Select | NP_006000.2:p.Ala174= | |
| NM_001270399.2:c.522G>A | NP_001257328.1:p.Ala174= | |
| NM_001270400.2:c.417G>A | NP_001257329.1:p.Ala139= |