Linked Data
ClinVar Variation Id:
45594
ClinVar RCV Id:
RCV000038810
RCV000172736
RCV000208305
RCV000252819
RCV001084130
RCV001293168
RCV003964863
dbSNP Id:
rs71579374
ExAC:
10:75860740 A / G
gnomAD v2:
10-75860740-A-G
gnomAD v3:
10-74100982-A-G
gnomAD v4:
10-74100982-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74100982A>G , CM000672.2:g.74100982A>G | GRCh38 |
| NC_000010.10:g.75860740A>G , CM000672.1:g.75860740A>G | GRCh37 |
| NC_000010.9:g.75530746A>G | NCBI36 |
| NG_008868.1:g.107869A>G , LRG_383:g.107869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.1907A>G MANE Select | ENSP00000211998.5:p.His636Arg | |
| ENST00000211998.8:c.1907A>G | ENSP00000211998.4:p.His636Arg | |
| ENST00000372755.7:c.1907A>G | ENSP00000361841.3:p.His636Arg | |
| ENST00000436396.1:c.923A>G | ENSP00000415489.1:p.His308Arg | |
| ENST00000478896.2:n.332-72A>G | ||
| ENST00000623461.3:n.4710A>G | ||
| ENST00000624354.3:c.*1662A>G | ENSP00000485551.1:n.*1662A>G | |
| NM_003373.3:c.1907A>G | NP_003364.1:p.His636Arg | |
| NM_014000.2:c.1907A>G , LRG_383t1:c.1907A>G | NP_054706.1:p.His636Arg | |
| XM_005270142.1:c.1910A>G | XP_005270199.1:p.His637Arg | |
| XM_005270143.1:c.1910A>G | XP_005270200.1:p.His637Arg | |
| NM_003373.4:c.1907A>G | NP_003364.1:p.His636Arg | |
| NM_014000.3:c.1907A>G MANE Select | NP_054706.1:p.His636Arg |