Linked Data
ClinVar Variation Id:
6424
dbSNP Id:
rs121908891
gnomAD v2:
5-131726525-G-A
gnomAD v3:
5-132390833-G-A
gnomAD v4:
5-132390833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390833G>A , CM000667.2:g.132390833G>A | GRCh38 |
| NC_000005.9:g.131726525G>A , CM000667.1:g.131726525G>A | GRCh37 |
| NC_000005.8:g.131754424G>A | NCBI36 |
| NG_008982.1:g.26125G>A | |
| NG_008982.2:g.26130G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1037G>A | ENSP00000388838.2:p.Arg346Gln | |
| ENST00000435065.7:c.1268G>A | ENSP00000402760.2:p.Arg423Gln | |
| ENST00000448810.6:c.*48G>A | ENSP00000401860.2:n.*48G>A | |
| ENST00000685543.1:n.1337G>A | ||
| ENST00000686757.1:c.*360G>A | ENSP00000510721.1:n.*360G>A | |
| ENST00000687740.1:n.3881G>A | ||
| ENST00000688151.1:n.2506G>A | ||
| ENST00000689271.1:c.1043G>A | ENSP00000510797.1:p.Arg348Gln | |
| ENST00000690900.1:c.*360G>A | ENSP00000510703.1:n.*360G>A | |
| ENST00000692212.1:n.2808G>A | ||
| ENST00000692355.1:c.449G>A | ||
| ENST00000692413.1:c.1178G>A | ENSP00000509374.1:p.Arg393Gln | |
| ENST00000692825.1:c.1264G>A | ENSP00000509447.1:n.1264G>A | |
| ENST00000693308.1:c.1244G>A | ENSP00000509770.1:p.Arg415Gln | |
| ENST00000693763.1:n.2356G>A | ||
| ENST00000245407.8:c.1196G>A MANE Select | ENSP00000245407.3:p.Arg399Gln | |
| ENST00000245407.7:c.1196G>A | ENSP00000245407.3:p.Arg399Gln | |
| ENST00000435065.6:c.1268G>A | ENSP00000402760.2:p.Arg423Gln | |
| ENST00000447841.5:c.112-1600G>A | ||
| ENST00000448810.5:c.458G>A | ||
| ENST00000461013.5:n.8618G>A | ||
| ENST00000475308.1:n.1874G>A | ||
| ENST00000479605.5:n.299G>A | ||
| NM_001308122.1:c.1268G>A | NP_001295051.1:p.Arg423Gln | |
| NM_003060.3:c.1196G>A | NP_003051.1:p.Arg399Gln | |
| XM_011543590.1:c.578G>A | XP_011541892.1:p.Arg193Gln | |
| XR_427718.1:n.1556G>A | ||
| XR_948290.1:n.1394-1600G>A | ||
| XR_948291.1:n.1550G>A | ||
| XM_011543590.2:c.578G>A | XP_011541892.1:p.Arg193Gln | |
| XM_017009778.2:c.668G>A | XP_016865267.1:p.Arg223Gln | |
| XR_001742215.1:n.1451G>A | ||
| XR_001742216.1:n.1470G>A | ||
| XR_427718.2:n.1556G>A | ||
| XR_948290.2:n.1394-1600G>A | ||
| XR_948291.2:n.1550G>A | ||
| NM_003060.4:c.1196G>A MANE Select | NP_003051.1:p.Arg399Gln | |
| NM_001308122.2:c.1268G>A | NP_001295051.1:p.Arg423Gln |