Linked Data
ClinVar Variation Id:
12006
ClinVar RCV Id:
RCV000012786
dbSNP Id:
rs104894568
gnomAD v2:
17-41059569-G-A
gnomAD v3:
17-42907552-G-A
gnomAD v4:
17-42907552-G-A
COSMIC:
COSM3189768
PubMed:
PMID:8733042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42907552G>A , CM000679.2:g.42907552G>A | GRCh38 |
| NC_000017.10:g.41059569G>A , CM000679.1:g.41059569G>A | GRCh37 |
| NC_000017.9:g.38313095G>A | NCBI36 |
| NG_011808.1:g.11755G>A , LRG_147:g.11755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.370G>A MANE Select | ENSP00000253801.1:p.Ala124Thr | |
| ENST00000253801.6:c.370G>A | ENSP00000253801.1:p.Ala124Thr | |
| ENST00000585489.1:c.370G>A | ENSP00000466202.1:p.Ala124Thr | |
| ENST00000592383.5:c.341-48G>A | ENSP00000465958.1:n.341-48G>A | |
| NM_000151.3:c.370G>A | NP_000142.2:p.Ala124Thr | |
| NM_001270397.1:c.341-48G>A | NP_001257326.1:n.341-48G>A | |
| NM_000151.4:c.370G>A MANE Select | NP_000142.2:p.Ala124Thr | |
| NM_001270397.2:c.341-48G>A | NP_001257326.1:n.341-48G>A |