Linked Data
ClinVar Variation Id:
3071855
ClinVar RCV Id:
RCV004016349
dbSNP Id:
rs547860327
ExAC:
1:55505592 G / A
gnomAD v2:
1-55505592-G-A
gnomAD v3:
1-55039919-G-A
gnomAD v4:
1-55039919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039919G>A , CM000663.2:g.55039919G>A | GRCh38 |
| NC_000001.10:g.55505592G>A , CM000663.1:g.55505592G>A | GRCh37 |
| NC_000001.9:g.55278180G>A | NCBI36 |
| NG_009061.1:g.5373G>A , LRG_275:g.5373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.82G>A | ENSP00000501161.2:p.Ala28Thr | |
| ENST00000710286.1:c.439G>A | ENSP00000518176.1:p.Ala147Thr | |
| ENST00000673726.1:c.82G>A | ENSP00000501004.1:p.Ala28Thr | |
| ENST00000302118.5:c.82G>A MANE Select | ENSP00000303208.5:p.Ala28Thr | |
| NM_174936.3:c.82G>A , LRG_275t1:c.82G>A | NP_777596.2:p.Ala28Thr | |
| NM_174936.4:c.82G>A MANE Select | NP_777596.2:p.Ala28Thr |