Linked Data
ClinVar Variation Id:
376492
ClinVar RCV Id:
RCV000418734
RCV000424742
RCV000425403
RCV000431951
RCV000436118
RCV000443605
RCV003993951
dbSNP Id:
rs772110575
ExAC:
3:178916726 G / A
gnomAD v2:
3-178916726-G-A
gnomAD v4:
3-179198938-G-A
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179198938G>A , CM000665.2:g.179198938G>A | GRCh38 |
| NC_000003.11:g.178916726G>A , CM000665.1:g.178916726G>A | GRCh37 |
| NC_000003.10:g.180399420G>A | NCBI36 |
| NG_012113.2:g.55416G>A , LRG_310:g.55416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.113G>A MANE Select | ENSP00000263967.3:p.Arg38His | |
| ENST00000643187.1:c.113G>A | ENSP00000493507.1:p.Arg38His | |
| ENST00000675467.1:n.2920G>A | ||
| ENST00000675786.1:c.113G>A | ENSP00000502323.1:p.Arg38His | |
| ENST00000263967.3:c.113G>A | ENSP00000263967.3:p.Arg38His | |
| ENST00000468036.1:c.113G>A | ENSP00000417479.1:p.Arg38His | |
| NM_006218.2:c.113G>A , LRG_310t1:c.113G>A | NP_006209.2:p.Arg38His | |
| XM_006713658.2:c.113G>A | XP_006713721.1:p.Arg38His | |
| XM_011512894.1:c.113G>A | XP_011511196.1:p.Arg38His | |
| NM_006218.3:c.113G>A | NP_006209.2:p.Arg38His | |
| XM_006713658.4:c.113G>A | XP_006713721.1:p.Arg38His | |
| XM_011512894.2:c.113G>A | XP_011511196.1:p.Arg38His | |
| NM_006218.4:c.113G>A MANE Select | NP_006209.2:p.Arg38His |