Linked Data
ClinVar Variation Id:
66522
ClinVar RCV Id:
RCV000056926
dbSNP Id:
rs57422427
ExAC:
12:53292643 C / T
gnomAD v2:
12-53292643-C-T
gnomAD v3:
12-52898859-C-T
gnomAD v4:
12-52898859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52898859C>T , CM000674.2:g.52898859C>T | GRCh38 |
| NC_000012.11:g.53292643C>T , CM000674.1:g.53292643C>T | GRCh37 |
| NC_000012.10:g.51578910C>T | NCBI36 |
| NG_008402.1:g.11226G>A | |
| NG_008402.2:g.56008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692008.1:c.1022G>A MANE Select | ENSP00000509398.1:p.Arg341His | |
| ENST00000293308.11:c.1022G>A | ENSP00000293308.6:p.Arg341His | |
| ENST00000546583.5:n.2212G>A | ||
| ENST00000546897.5:c.1022G>A | ENSP00000447402.1:p.Arg341His | |
| ENST00000547031.5:n.493G>A | ||
| ENST00000550170.5:n.1560G>A | ||
| ENST00000552150.5:c.1106G>A | ENSP00000449404.1:p.Arg369His | |
| ENST00000552551.5:c.1022G>A | ENSP00000447566.1:p.Arg341His | |
| NM_001256282.1:c.1106G>A | NP_001243211.1:p.Arg369His | |
| NM_001256293.1:c.1022G>A | NP_001243222.1:p.Arg341His | |
| NM_002273.3:c.1022G>A | NP_002264.1:p.Arg341His | |
| NR_045962.1:n.1479G>A | ||
| NM_001256282.2:c.1106G>A | NP_001243211.1:p.Arg369His | |
| NM_001256293.2:c.1022G>A | NP_001243222.1:p.Arg341His | |
| NM_002273.4:c.1022G>A MANE Select | NP_002264.1:p.Arg341His | |
| NR_045962.2:n.1473G>A |