Linked Data
ClinVar Variation Id:
1163548
dbSNP Id:
rs121964929
ExAC:
13:113772841 G / A
gnomAD v2:
13-113772841-G-A
gnomAD v3:
13-113118527-G-A
gnomAD v4:
13-113118527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118527G>A , CM000675.2:g.113118527G>A | GRCh38 |
| NC_000013.10:g.113772841G>A , CM000675.1:g.113772841G>A | GRCh37 |
| NC_000013.9:g.112820842G>A | NCBI36 |
| NG_009258.1:g.729G>A , LRG_548:g.729G>A | |
| NG_009262.1:g.17737G>A , LRG_554:g.17737G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.854G>A MANE Select | ENSP00000329546.4:p.Arg285His | |
| ENST00000346342.7:c.854G>A | ENSP00000329546.3:p.Arg285His | |
| ENST00000375581.3:c.920G>A | ENSP00000364731.3:p.Arg307His | |
| ENST00000541084.5:c.668G>A | ENSP00000442051.2:p.Arg223His | |
| NM_000131.4:c.920G>A , LRG_554t1:c.920G>A | NP_000122.1:p.Arg307His | |
| NM_001267554.1:c.668G>A | NP_001254483.1:p.Arg223His | |
| NM_019616.3:c.854G>A , LRG_554t2:c.854G>A | NP_062562.1:p.Arg285His | |
| NR_051961.1:n.941G>A | ||
| XM_006719963.2:c.713G>A | XP_006720026.1:p.Arg238His | |
| XM_011537474.1:c.962G>A | XP_011535776.1:p.Arg321His | |
| XM_011537475.1:c.776G>A | XP_011535777.1:p.Arg259His | |
| XM_011537476.1:c.614G>A | XP_011535778.1:p.Arg205His | |
| XM_011537477.1:c.923G>A | XP_011535779.1:p.Arg308His | |
| XM_006719963.3:c.758G>A | XP_006720026.2:p.Arg253His | |
| XM_011537474.2:c.1007G>A | XP_011535776.2:p.Arg336His | |
| XM_011537475.2:c.821G>A | XP_011535777.2:p.Arg274His | |
| XM_011537476.2:c.614G>A | XP_011535778.1:p.Arg205His | |
| NM_019616.4:c.854G>A MANE Select | NP_062562.1:p.Arg285His | |
| NR_051961.2:n.938G>A | ||
| NM_001267554.2:c.668G>A | NP_001254483.1:p.Arg223His |