Linked Data
ClinVar Variation Id:
214337
dbSNP Id:
rs148921184
ExAC:
6:5771574 G / A
gnomAD v2:
6-5771574-G-A
gnomAD v3:
6-5771341-G-A
gnomAD v4:
6-5771341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5771341G>A , CM000668.2:g.5771341G>A | GRCh38 |
| NC_000006.11:g.5771574G>A , CM000668.1:g.5771574G>A | GRCh37 |
| NC_000006.10:g.5716573G>A | NCBI36 |
| NG_033003.1:g.514991G>A | |
| NG_033003.2:g.514991G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274680.9:c.1268G>A MANE Select | ENSP00000274680.4:p.Arg423Gln | |
| ENST00000648580.1:c.1218-50367G>A | ENSP00000497889.1:n.1218-50367G>A | |
| ENST00000274680.8:c.1268G>A | ENSP00000274680.3:p.Arg423Gln | |
| ENST00000324331.10:c.1268G>A | ENSP00000316335.5:p.Arg423Gln | |
| NM_006567.3:c.1268G>A | NP_006558.1:p.Arg423Gln | |
| XM_005248811.1:c.1268G>A | XP_005248868.1:p.Arg423Gln | |
| XM_005248812.2:c.1268G>A | XP_005248869.1:p.Arg423Gln | |
| XR_926026.1:n.2242G>A | ||
| XR_926028.1:n.1731G>A | ||
| NM_001318872.1:c.1268G>A | NP_001305801.1:p.Arg423Gln | |
| NM_006567.4:c.1268G>A | NP_006558.1:p.Arg423Gln | |
| XM_005248812.3:c.1268G>A | XP_005248869.1:p.Arg423Gln | |
| XM_017010186.1:c.1268G>A | XP_016865675.1:p.Arg423Gln | |
| XM_017010187.1:c.1268G>A | XP_016865676.1:p.Arg423Gln | |
| XR_926028.2:n.1708G>A | ||
| NM_001318872.2:c.1268G>A | NP_001305801.1:p.Arg423Gln | |
| NM_001374875.1:c.1268G>A | NP_001361804.1:p.Arg423Gln | |
| NM_001374876.1:c.1268G>A | NP_001361805.1:p.Arg423Gln | |
| NM_001374877.1:c.1268G>A | NP_001361806.1:p.Arg423Gln | |
| NM_001374878.1:c.1268G>A | NP_001361807.1:p.Arg423Gln | |
| NM_001374879.1:c.1268G>A | NP_001361808.1:p.Arg423Gln | |
| NM_001375257.1:c.1268G>A | NP_001362186.1:p.Arg423Gln | |
| NM_001375258.1:c.1136G>A | NP_001362187.1:p.Arg379Gln | |
| NM_001375259.1:c.572G>A | NP_001362188.1:p.Arg191Gln | |
| NM_001375260.1:c.572G>A | NP_001362189.1:p.Arg191Gln | |
| NM_006567.5:c.1268G>A MANE Select | NP_006558.1:p.Arg423Gln |