Linked Data
ClinVar Variation Id:
449379
dbSNP Id:
rs1414742926
gnomAD v2:
1-160100376-G-A
gnomAD v4:
1-160130586-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130586G>A , CM000663.2:g.160130586G>A | GRCh38 |
| NC_000001.10:g.160100376G>A , CM000663.1:g.160100376G>A | GRCh37 |
| NC_000001.9:g.158367000G>A | NCBI36 |
| NG_008014.1:g.19829G>A , LRG_6:g.19829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1816G>A MANE Select | ENSP00000354490.3:p.Ala606Thr | |
| ENST00000361216.7:c.1816G>A | ENSP00000354490.3:p.Ala606Thr | |
| ENST00000392233.7:c.1816G>A | ENSP00000376066.3:p.Ala606Thr | |
| ENST00000447527.1:c.948G>A | ||
| ENST00000472488.5:n.1919G>A | ||
| NM_000702.3:c.1816G>A | NP_000693.1:p.Ala606Thr | |
| NM_000702.4:c.1816G>A MANE Select | NP_000693.1:p.Ala606Thr |