Linked Data
ClinVar Variation Id:
67038
ClinVar RCV Id:
RCV000057596
RCV000543065
RCV001104917
RCV001106072
RCV001104916
RCV000988473
RCV001841670
RCV004537258
RCV004018993
dbSNP Id:
rs199472788
ExAC:
11:2790115 G / A
gnomAD v2:
11-2790115-G-A
gnomAD v3:
11-2768885-G-A
gnomAD v4:
11-2768885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768885G>A , CM000673.2:g.2768885G>A | GRCh38 |
| NC_000011.9:g.2790115G>A , CM000673.1:g.2790115G>A | GRCh37 |
| NC_000011.8:g.2746691G>A | NCBI36 |
| NG_008935.1:g.328895G>A , LRG_287:g.328895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1199G>A | ENSP00000434560.2:p.Arg400His | |
| ENST00000646564.2:c.1016G>A | ENSP00000495806.2:p.Arg339His | |
| ENST00000155840.12:c.1556G>A MANE Select | ENSP00000155840.2:p.Arg519His | |
| ENST00000335475.6:c.1175G>A | ENSP00000334497.5:p.Arg392His | |
| ENST00000646564.1:c.662G>A | ENSP00000495806.1:p.Arg221His | |
| ENST00000155840.9:c.1556G>A | ENSP00000155840.2:p.Arg519His | |
| ENST00000335475.5:c.1175G>A | ENSP00000334497.5:p.Arg392His | |
| NM_000218.2:c.1556G>A , LRG_287t1:c.1556G>A | NP_000209.2:p.Arg519His | |
| NM_181798.1:c.1175G>A , LRG_287t2:c.1175G>A | NP_861463.1:p.Arg392His | |
| NM_000218.3:c.1556G>A MANE Select | NP_000209.2:p.Arg519His |