Linked Data
ClinVar Variation Id:
43475
ClinVar RCV Id:
RCV000036404
RCV000119379
RCV000154179
RCV000211874
RCV000248445
RCV000491626
RCV000624611
RCV000678725
RCV000776290
dbSNP Id:
rs143139258
ExAC:
12:111350901 T / G
gnomAD v2:
12-111350901-T-G
gnomAD v3:
12-110913097-T-G
gnomAD v4:
12-110913097-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913097T>G , CM000674.2:g.110913097T>G | GRCh38 |
| NC_000012.11:g.111350901T>G , CM000674.1:g.111350901T>G | GRCh37 |
| NC_000012.10:g.109835284T>G | NCBI36 |
| NG_007554.1:g.12481A>C , LRG_393:g.12481A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228841.15:c.401A>C MANE Select | ENSP00000228841.8:p.Glu134Ala | |
| ENST00000663220.1:c.344A>C | ENSP00000499568.1:p.Glu115Ala | |
| ENST00000228841.12:c.401A>C | ENSP00000228841.7:p.Glu134Ala | |
| ENST00000548438.1:c.359A>C | ENSP00000447154.1:p.Glu120Ala | |
| NM_000432.3:c.401A>C , LRG_393t1:c.401A>C | NP_000423.2:p.Glu134Ala | |
| NM_000432.4:c.401A>C MANE Select | NP_000423.2:p.Glu134Ala |