Linked Data
ClinVar Variation Id:
3056036
ClinVar RCV Id:
RCV003976636
dbSNP Id:
rs13962
ExAC:
1:159175527 G / A
gnomAD v2:
1-159175527-G-A
gnomAD v3:
1-159205737-G-A
gnomAD v4:
1-159205737-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159205737G>A , CM000663.2:g.159205737G>A | GRCh38 |
| NC_000001.10:g.159175527G>A , CM000663.1:g.159175527G>A | GRCh37 |
| NC_000001.9:g.157442151G>A | NCBI36 |
| NG_011626.1:g.6018G>A | |
| NG_011626.3:g.6725G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368121.6:c.304G>A | ENSP00000357103.2:p.Ala102Thr | |
| ENST00000368122.4:c.298G>A MANE Select | ENSP00000357104.1:p.Ala100Thr | |
| ENST00000435307.2:n.479G>A | ||
| ENST00000368121.3:c.304G>A | ENSP00000357103.2:p.Ala102Thr | |
| ENST00000368122.2:c.298G>A | ENSP00000357104.1:p.Ala100Thr | |
| ENST00000435307.1:c.304G>A | ENSP00000398406.1:p.Ala102Thr | |
| ENST00000537147.5:c.298G>A | ENSP00000441985.1:p.Ala100Thr | |
| NM_001122951.2:c.304G>A | NP_001116423.1:p.Ala102Thr | |
| NM_002036.3:c.298G>A | NP_002027.2:p.Ala100Thr | |
| NM_002036.4:c.298G>A MANE Select | NP_002027.2:p.Ala100Thr | |
| NM_001122951.3:c.304G>A | NP_001116423.1:p.Ala102Thr |