Linked Data
ClinVar Variation Id:
1046553
dbSNP Id:
rs1245161747
gnomAD v2:
1-55527173-G-A
gnomAD v3:
1-55061500-G-A
gnomAD v4:
1-55061500-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061500G>A , CM000663.2:g.55061500G>A | GRCh38 |
| NC_000001.10:g.55527173G>A , CM000663.1:g.55527173G>A | GRCh37 |
| NC_000001.9:g.55299761G>A | NCBI36 |
| NG_009061.1:g.26954G>A , LRG_275:g.26954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*147G>A | ENSP00000501161.2:n.*147G>A | |
| ENST00000710286.1:c.2164G>A | ENSP00000518176.1:p.Ala722Thr | |
| ENST00000673903.1:c.1432G>A | ENSP00000501257.1:p.Ala478Thr | |
| ENST00000673913.1:c.657G>A | ENSP00000501161.1:n.657G>A | |
| ENST00000302118.5:c.1807G>A MANE Select | ENSP00000303208.5:p.Ala603Thr | |
| ENST00000490692.1:n.2353G>A | ||
| NM_174936.3:c.1807G>A , LRG_275t1:c.1807G>A | NP_777596.2:p.Ala603Thr | |
| NR_110451.1:n.1414G>A | ||
| XM_011541193.1:c.928G>A | XP_011539495.1:p.Ala310Thr | |
| NM_174936.4:c.1807G>A MANE Select | NP_777596.2:p.Ala603Thr | |
| NR_110451.2:n.1414G>A |