Linked Data
ClinVar Variation Id:
531910
ClinVar RCV Id:
RCV000638467
dbSNP Id:
rs1018058365
gnomAD v2:
2-233128119-G-A
gnomAD v3:
2-232263409-G-A
gnomAD v4:
2-232263409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232263409G>A , CM000664.2:g.232263409G>A | GRCh38 |
| NC_000002.11:g.233128119G>A , CM000664.1:g.233128119G>A | GRCh37 |
| NC_000002.10:g.232836363G>A | NCBI36 |
| NG_032572.1:g.306827G>A , LRG_534:g.306827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325385.12:c.1628G>A MANE Select | ENSP00000315569.7:p.Arg543His | |
| ENST00000273009.10:c.1581+47G>A | ENSP00000273009.6:n.1581+47G>A | |
| ENST00000325385.11:c.1628G>A | ENSP00000315569.7:p.Arg543His | |
| ENST00000390005.9:c.1628G>A | ENSP00000374655.5:p.Arg543His | |
| ENST00000409307.5:c.1628G>A | ENSP00000386799.1:p.Arg543His | |
| ENST00000424049.1:c.533G>A | ENSP00000415419.1:p.Arg178His | |
| ENST00000433430.5:c.2782G>A | ENSP00000391175.1:n.2782G>A | |
| ENST00000445090.5:c.*854G>A | ENSP00000388999.1:n.*854G>A | |
| ENST00000498319.2:n.210G>A | ||
| NM_001257281.1:c.1581+47G>A | NP_001244210.1:n.1581+47G>A | |
| NM_152383.4:c.1628G>A , LRG_534t1:c.1628G>A | NP_689596.4:p.Arg543His | |
| NR_046476.1:n.1904G>A | ||
| NR_046477.1:n.1880G>A | ||
| NM_001257281.2:c.1581+47G>A | NP_001244210.1:n.1581+47G>A | |
| NM_152383.5:c.1628G>A MANE Select | NP_689596.4:p.Arg543His | |
| NR_046476.2:n.1774G>A | ||
| NR_046477.2:n.1750G>A |