Linked Data
ClinVar Variation Id:
510284
ClinVar RCV Id:
RCV000604070
dbSNP Id:
rs142541710
ExAC:
5:78326806 G / A
gnomAD v2:
5-78326806-G-A
gnomAD v3:
5-79030983-G-A
gnomAD v4:
5-79030983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79030983G>A , CM000667.2:g.79030983G>A | GRCh38 |
| NC_000005.9:g.78326806G>A , CM000667.1:g.78326806G>A | GRCh37 |
| NC_000005.8:g.78362562G>A | NCBI36 |
| NG_012164.1:g.43644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1533C>T MANE Select | ENSP00000255189.3:p.Arg511= | |
| ENST00000255189.7:c.1533C>T | ENSP00000255189.3:p.Arg511= | |
| ENST00000517853.5:c.*295C>T | ENSP00000428995.1:n.*295C>T | |
| ENST00000518477.5:c.*767C>T | ENSP00000427834.1:n.*767C>T | |
| ENST00000523732.1:c.1050C>T | ENSP00000430972.1:p.Arg350= | |
| NM_013391.3:c.1533C>T MANE Select | NP_037523.2:p.Arg511= | |
| NR_104002.1:n.1118C>T | ||
| NR_104003.1:n.670C>T | ||
| XM_006714597.1:c.1533C>T | XP_006714660.1:p.Arg511= | |
| XM_011543354.1:c.1533C>T | XP_011541656.1:p.Arg511= | |
| XM_011543355.1:c.1533C>T | XP_011541657.1:p.Arg511= | |
| XM_006714597.2:c.1533C>T | XP_006714660.1:p.Arg511= | |
| XM_011543355.2:c.1533C>T | XP_011541657.1:p.Arg511= | |
| NR_104002.2:n.1118C>T | ||
| NR_104003.2:n.670C>T | ||
| NR_104002.3:n.1118C>T | ||
| NR_104003.3:n.670C>T |