Linked Data
ClinVar Variation Id:
53101
ClinVar RCV Id:
RCV000046124
RCV000057756
RCV000182113
RCV001814031
RCV001813753
RCV000709733
RCV002408548
RCV001841653
RCV001843471
dbSNP Id:
rs199472720
ExAC:
11:2593335 G / A
gnomAD v2:
11-2593335-G-A
gnomAD v3:
11-2572105-G-A
gnomAD v4:
11-2572105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572105G>A , CM000673.2:g.2572105G>A | GRCh38 |
| NC_000011.9:g.2593335G>A , CM000673.1:g.2593335G>A | GRCh37 |
| NC_000011.8:g.2549911G>A | NCBI36 |
| NG_008935.1:g.132115G>A , LRG_287:g.132115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.515G>A | ENSP00000434560.2:p.Arg172His | |
| ENST00000646564.2:c.478-11330G>A | ENSP00000495806.2:n.478-11330G>A | |
| ENST00000155840.12:c.776G>A MANE Select | ENSP00000155840.2:p.Arg259His | |
| ENST00000335475.6:c.395G>A | ENSP00000334497.5:p.Arg132His | |
| ENST00000646564.1:c.124-11330G>A | ENSP00000495806.1:n.124-11330G>A | |
| ENST00000155840.9:c.776G>A | ENSP00000155840.2:p.Arg259His | |
| ENST00000335475.5:c.395G>A | ENSP00000334497.5:p.Arg132His | |
| ENST00000496887.6:c.515G>A | ENSP00000434560.1:p.Arg172His | |
| NM_000218.2:c.776G>A , LRG_287t1:c.776G>A | NP_000209.2:p.Arg259His | |
| NM_181798.1:c.395G>A , LRG_287t2:c.395G>A | NP_861463.1:p.Arg132His | |
| NM_000218.3:c.776G>A MANE Select | NP_000209.2:p.Arg259His |