Linked Data
ClinVar Variation Id:
3034950
ClinVar RCV Id:
RCV003909447
dbSNP Id:
rs143306245
ExAC:
2:220149663 G / A
gnomAD v2:
2-220149663-G-A
gnomAD v3:
2-219284941-G-A
gnomAD v4:
2-219284941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219284941G>A , CM000664.2:g.219284941G>A | GRCh38 |
| NC_000002.11:g.220149663G>A , CM000664.1:g.220149663G>A | GRCh37 |
| NC_000002.10:g.219857907G>A | NCBI36 |
| NG_029553.1:g.10624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684599.1:n.1136G>A | ||
| ENST00000336576.10:c.929G>A MANE Select | ENSP00000338019.5:p.Arg310His | |
| ENST00000336576.9:c.929G>A | ENSP00000338019.5:p.Arg310His | |
| ENST00000392086.8:c.823+106G>A | ENSP00000375936.4:n.823+106G>A | |
| ENST00000472019.5:n.566+106G>A | ||
| ENST00000473750.5:n.716G>A | ||
| ENST00000477917.5:n.2533G>A | ||
| NM_001039550.1:c.823+106G>A | NP_001034639.1:n.823+106G>A | |
| NM_006736.5:c.929G>A | NP_006727.2:p.Arg310His | |
| NM_001039550.2:c.823+106G>A | NP_001034639.1:n.823+106G>A | |
| NM_006736.6:c.929G>A MANE Select | NP_006727.2:p.Arg310His |