Linked Data
ClinVar Variation Id:
420159
dbSNP Id:
rs121964926
ExAC:
13:113773012 G / A
gnomAD v2:
13-113773012-G-A
gnomAD v3:
13-113118698-G-A
gnomAD v4:
13-113118698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118698G>A , CM000675.2:g.113118698G>A | GRCh38 |
| NC_000013.10:g.113773012G>A , CM000675.1:g.113773012G>A | GRCh37 |
| NC_000013.9:g.112821013G>A | NCBI36 |
| NG_009258.1:g.900G>A , LRG_548:g.900G>A | |
| NG_009262.1:g.17908G>A , LRG_554:g.17908G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.1025G>A MANE Select | ENSP00000329546.4:p.Arg342Gln | |
| ENST00000346342.7:c.1025G>A | ENSP00000329546.3:p.Arg342Gln | |
| ENST00000375581.3:c.1091G>A | ENSP00000364731.3:p.Arg364Gln | |
| ENST00000541084.5:c.839G>A | ENSP00000442051.2:p.Arg280Gln | |
| NM_000131.4:c.1091G>A , LRG_554t1:c.1091G>A | NP_000122.1:p.Arg364Gln | |
| NM_001267554.1:c.839G>A | NP_001254483.1:p.Arg280Gln | |
| NM_019616.3:c.1025G>A , LRG_554t2:c.1025G>A | NP_062562.1:p.Arg342Gln | |
| NR_051961.1:n.1112G>A | ||
| XM_006719963.2:c.884G>A | XP_006720026.1:p.Arg295Gln | |
| XM_011537474.1:c.1133G>A | XP_011535776.1:p.Arg378Gln | |
| XM_011537475.1:c.947G>A | XP_011535777.1:p.Arg316Gln | |
| XM_011537476.1:c.785G>A | XP_011535778.1:p.Arg262Gln | |
| XM_011537477.1:c.1094G>A | XP_011535779.1:p.Arg365Gln | |
| XM_006719963.3:c.929G>A | XP_006720026.2:p.Arg310Gln | |
| XM_011537474.2:c.1178G>A | XP_011535776.2:p.Arg393Gln | |
| XM_011537475.2:c.992G>A | XP_011535777.2:p.Arg331Gln | |
| XM_011537476.2:c.785G>A | XP_011535778.1:p.Arg262Gln | |
| NM_019616.4:c.1025G>A MANE Select | NP_062562.1:p.Arg342Gln | |
| NR_051961.2:n.1109G>A | ||
| NM_001267554.2:c.839G>A | NP_001254483.1:p.Arg280Gln |