Linked Data
ClinVar Variation Id:
13221
ClinVar RCV Id:
RCV000014124
dbSNP Id:
rs121918556
ExAC:
3:165504043 T / A
gnomAD v2:
3-165504043-T-A
gnomAD v3:
3-165786255-T-A
gnomAD v4:
3-165786255-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786255T>A , CM000665.2:g.165786255T>A | GRCh38 |
| NC_000003.11:g.165504043T>A , CM000665.1:g.165504043T>A | GRCh37 |
| NC_000003.10:g.166986737T>A | NCBI36 |
| NG_009031.1:g.56211A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1574A>T MANE Select | ENSP00000264381.3:p.Glu525Val | |
| ENST00000264381.7:c.1574A>T | ENSP00000264381.3:p.Glu525Val | |
| ENST00000479451.5:c.164A>T | ENSP00000418325.1:p.Glu55Val | |
| ENST00000482958.1:c.*80A>T | ENSP00000419804.1:n.*80A>T | |
| ENST00000488954.1:c.164A>T | ENSP00000418504.1:p.Glu55Val | |
| ENST00000497011.5:c.1574A>T | ENSP00000419505.1:p.Glu525Val | |
| NM_000055.2:c.1574A>T | NP_000046.1:p.Glu525Val | |
| XM_005247685.1:c.1697A>T | XP_005247742.1:p.Glu566Val | |
| NM_000055.3:c.1574A>T | NP_000046.1:p.Glu525Val | |
| NR_137635.1:n.216A>T | ||
| NR_137636.1:n.1741A>T | ||
| NM_000055.4:c.1574A>T MANE Select | NP_000046.1:p.Glu525Val | |
| NR_137635.2:n.167A>T | ||
| NR_137636.2:n.1692A>T |