Linked Data
ClinVar Variation Id:
53003
ClinVar RCV Id:
RCV000046012
RCV000057614
RCV000182212
RCV000619418
RCV003591637
RCV002483049
RCV003319308
dbSNP Id:
rs199472800
gnomAD v2:
11-2797263-G-A
gnomAD v3:
11-2776033-G-A
gnomAD v4:
11-2776033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776033G>A , CM000673.2:g.2776033G>A | GRCh38 |
| NC_000011.9:g.2797263G>A , CM000673.1:g.2797263G>A | GRCh37 |
| NC_000011.8:g.2753839G>A | NCBI36 |
| NG_008935.1:g.336043G>A , LRG_287:g.336043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1307G>A | ENSP00000434560.2:p.Arg436His | |
| ENST00000646564.2:c.1124G>A | ENSP00000495806.2:p.Arg375His | |
| ENST00000155840.12:c.1664G>A MANE Select | ENSP00000155840.2:p.Arg555His | |
| ENST00000335475.6:c.1283G>A | ENSP00000334497.5:p.Arg428His | |
| ENST00000646564.1:c.770G>A | ENSP00000495806.1:p.Arg257His | |
| ENST00000155840.9:c.1664G>A | ENSP00000155840.2:p.Arg555His | |
| ENST00000335475.5:c.1283G>A | ENSP00000334497.5:p.Arg428His | |
| NM_000218.2:c.1664G>A , LRG_287t1:c.1664G>A | NP_000209.2:p.Arg555His | |
| NM_181798.1:c.1283G>A , LRG_287t2:c.1283G>A | NP_861463.1:p.Arg428His | |
| NM_000218.3:c.1664G>A MANE Select | NP_000209.2:p.Arg555His |