Linked Data
ClinVar Variation Id:
1990912
ClinVar RCV Id:
RCV002771473
dbSNP Id:
rs1272869223
gnomAD v2:
15-48766824-C-T
gnomAD v3:
15-48474627-C-T
gnomAD v4:
15-48474627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474627C>T , CM000677.2:g.48474627C>T | GRCh38 |
| NC_000015.9:g.48766824C>T , CM000677.1:g.48766824C>T | GRCh37 |
| NC_000015.8:g.46554116C>T | NCBI36 |
| NG_008805.2:g.176162G>A , LRG_778:g.176162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3988G>A | ENSP00000453958.2:p.Ala1330Thr | |
| ENST00000674301.2:c.3988G>A | ENSP00000501333.2:p.Ala1330Thr | |
| ENST00000684448.1:n.2662G>A | ||
| ENST00000316623.10:c.3988G>A MANE Select | ENSP00000325527.5:p.Ala1330Thr | |
| ENST00000316623.9:c.3988G>A | ENSP00000325527.5:p.Ala1330Thr | |
| ENST00000537463.6:c.660G>A | ENSP00000440294.2:p.Glu220= | |
| NM_000138.4:c.3988G>A , LRG_778t1:c.3988G>A | NP_000129.3:p.Ala1330Thr | |
| NM_000138.5:c.3988G>A MANE Select | NP_000129.3:p.Ala1330Thr |