Linked Data
ClinVar Variation Id:
2451988
ClinVar RCV Id:
RCV003187684
dbSNP Id:
rs985415192
gnomAD v2:
15-40763500-G-A
gnomAD v3:
15-40471301-G-A
gnomAD v4:
15-40471301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471301G>A , CM000677.2:g.40471301G>A | GRCh38 |
| NC_000015.9:g.40763500G>A , CM000677.1:g.40763500G>A | GRCh37 |
| NC_000015.8:g.38550792G>A | NCBI36 |
| NG_017074.1:g.5341G>A , LRG_600:g.5341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.88G>A MANE Select | ENSP00000307297.6:p.Ala30Thr | |
| ENST00000306243.6:c.88G>A | ENSP00000307297.5:p.Ala30Thr | |
| ENST00000559991.1:c.88G>A | ENSP00000453882.1:p.Ala30Thr | |
| NM_130468.3:c.88G>A , LRG_600t1:c.88G>A | NP_569735.1:p.Ala30Thr | |
| NM_130468.4:c.88G>A MANE Select | NP_569735.1:p.Ala30Thr |