Linked Data
ClinVar Variation Id:
524928
ClinVar RCV Id:
RCV001486059
dbSNP Id:
rs559964753
ExAC:
22:19883030 C / A
gnomAD v2:
22-19883030-C-A
gnomAD v3:
22-19895507-C-A
gnomAD v4:
22-19895507-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895507C>A , CM000684.2:g.19895507C>A | GRCh38 |
| NC_000022.10:g.19883030C>A , CM000684.1:g.19883030C>A | GRCh37 |
| NC_000022.9:g.18263030C>A | NCBI36 |
| NG_011835.1:g.51330G>T , LRG_417:g.51330G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.849G>T MANE Select | ENSP00000383365.1:p.Arg283= | |
| ENST00000334363.14:c.849G>T | ENSP00000334451.9:p.Arg283= | |
| ENST00000400518.5:c.759G>T | ENSP00000383362.1:p.Arg253= | |
| ENST00000400519.6:c.846G>T | ENSP00000383363.1:p.Arg282= | |
| ENST00000400521.6:c.849G>T | ENSP00000383365.1:p.Arg283= | |
| ENST00000400525.6:c.780G>T | ENSP00000383369.3:p.Arg260= | |
| ENST00000474308.5:c.792G>T | ENSP00000485665.1:p.Arg264= | |
| ENST00000475995.3:c.346G>T | ||
| ENST00000491939.6:c.753G>T | ENSP00000485543.1:p.Arg251= | |
| ENST00000494454.5:n.923G>T | ||
| ENST00000542719.6:c.561G>T | ENSP00000485128.2:p.Arg187= | |
| ENST00000634537.1:c.78G>T | ENSP00000489208.1:p.Arg26= | |
| ENST00000635155.1:n.435G>T | ||
| NM_001282512.1:c.849G>T | NP_001269441.1:p.Arg283= | |
| NM_006440.4:c.849G>T | NP_006431.2:p.Arg283= | |
| NM_001282512.2:c.849G>T | NP_001269441.1:p.Arg283= | |
| NM_001352300.1:c.846G>T | NP_001339229.1:p.Arg282= | |
| NM_001352301.1:c.759G>T | NP_001339230.1:p.Arg253= | |
| NM_001352302.1:c.561G>T | NP_001339231.1:p.Arg187= | |
| NM_001352303.1:c.753G>T | NP_001339232.1:p.Arg251= | |
| NR_147957.1:n.981G>T | ||
| NM_006440.5:c.849G>T MANE Select | NP_006431.2:p.Arg283= | |
| NM_001282512.3:c.849G>T | NP_001269441.1:p.Arg283= | |
| NM_001352300.2:c.846G>T | NP_001339229.1:p.Arg282= | |
| NR_147957.2:n.807G>T | ||
| NM_001352301.2:c.759G>T | NP_001339230.1:p.Arg253= | |
| NM_001352302.2:c.561G>T | NP_001339231.1:p.Arg187= | |
| NM_001352303.2:c.753G>T | NP_001339232.1:p.Arg251= |