Linked Data
ClinVar Variation Id:
53087
ClinVar RCV Id:
RCV000046107
RCV000057734
RCV000115007
RCV000115008
RCV000182101
RCV000762833
RCV002371883
dbSNP Id:
rs199472709
gnomAD v2:
11-2593251-G-A
gnomAD v4:
11-2572021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572021G>A , CM000673.2:g.2572021G>A | GRCh38 |
| NC_000011.9:g.2593251G>A , CM000673.1:g.2593251G>A | GRCh37 |
| NC_000011.8:g.2549827G>A | NCBI36 |
| NG_008935.1:g.132031G>A , LRG_287:g.132031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.431G>A | ENSP00000434560.2:p.Arg144His | |
| ENST00000646564.2:c.478-11414G>A | ENSP00000495806.2:n.478-11414G>A | |
| ENST00000155840.12:c.692G>A MANE Select | ENSP00000155840.2:p.Arg231His | |
| ENST00000335475.6:c.311G>A | ENSP00000334497.5:p.Arg104His | |
| ENST00000646564.1:c.124-11414G>A | ENSP00000495806.1:n.124-11414G>A | |
| ENST00000155840.9:c.692G>A | ENSP00000155840.2:p.Arg231His | |
| ENST00000335475.5:c.311G>A | ENSP00000334497.5:p.Arg104His | |
| ENST00000496887.6:c.431G>A | ENSP00000434560.1:p.Arg144His | |
| NM_000218.2:c.692G>A , LRG_287t1:c.692G>A | NP_000209.2:p.Arg231His | |
| NM_181798.1:c.311G>A , LRG_287t2:c.311G>A | NP_861463.1:p.Arg104His | |
| NM_000218.3:c.692G>A MANE Select | NP_000209.2:p.Arg231His |