Linked Data
ClinVar Variation Id:
3055985
ClinVar RCV Id:
RCV003972250
dbSNP Id:
rs9858542
ExAC:
3:49701983 G / A
gnomAD v2:
3-49701983-G-A
gnomAD v3:
3-49664550-G-A
gnomAD v4:
3-49664550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49664550G>A , CM000665.2:g.49664550G>A | GRCh38 |
| NC_000003.11:g.49701983G>A , CM000665.1:g.49701983G>A | GRCh37 |
| NC_000003.10:g.49676987G>A | NCBI36 |
| NG_015892.1:g.115062G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296452.5:c.11736G>A MANE Select | ENSP00000296452.4:p.Thr3912= | |
| ENST00000296452.4:c.11736G>A | ENSP00000296452.4:p.Thr3912= | |
| NM_003458.3:c.11736G>A | NP_003449.2:p.Thr3912= | |
| NM_003458.4:c.11736G>A MANE Select | NP_003449.2:p.Thr3912= |