Linked Data
ClinVar Variation Id:
1589984
dbSNP Id:
rs763086193
ExAC:
22:19882961 C / T
gnomAD v2:
22-19882961-C-T
gnomAD v4:
22-19895438-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895438C>T , CM000684.2:g.19895438C>T | GRCh38 |
| NC_000022.10:g.19882961C>T , CM000684.1:g.19882961C>T | GRCh37 |
| NC_000022.9:g.18262961C>T | NCBI36 |
| NG_011835.1:g.51399G>A , LRG_417:g.51399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.918G>A MANE Select | ENSP00000383365.1:p.Thr306= | |
| ENST00000334363.14:c.918G>A | ENSP00000334451.9:p.Thr306= | |
| ENST00000400518.5:c.828G>A | ENSP00000383362.1:p.Thr276= | |
| ENST00000400519.6:c.915G>A | ENSP00000383363.1:p.Thr305= | |
| ENST00000400521.6:c.918G>A | ENSP00000383365.1:p.Thr306= | |
| ENST00000400525.6:c.849G>A | ENSP00000383369.3:p.Thr283= | |
| ENST00000474308.5:c.861G>A | ENSP00000485665.1:p.Thr287= | |
| ENST00000475995.3:c.415G>A | ||
| ENST00000491939.6:c.822G>A | ENSP00000485543.1:p.Thr274= | |
| ENST00000494454.5:n.992G>A | ||
| ENST00000542719.6:c.630G>A | ENSP00000485128.2:p.Thr210= | |
| ENST00000634537.1:c.147G>A | ENSP00000489208.1:p.Thr49= | |
| ENST00000635155.1:n.504G>A | ||
| NM_001282512.1:c.918G>A | NP_001269441.1:p.Thr306= | |
| NM_006440.4:c.918G>A | NP_006431.2:p.Thr306= | |
| NM_001282512.2:c.918G>A | NP_001269441.1:p.Thr306= | |
| NM_001352300.1:c.915G>A | NP_001339229.1:p.Thr305= | |
| NM_001352301.1:c.828G>A | NP_001339230.1:p.Thr276= | |
| NM_001352302.1:c.630G>A | NP_001339231.1:p.Thr210= | |
| NM_001352303.1:c.822G>A | NP_001339232.1:p.Thr274= | |
| NR_147957.1:n.1050G>A | ||
| NM_006440.5:c.918G>A MANE Select | NP_006431.2:p.Thr306= | |
| NM_001282512.3:c.918G>A | NP_001269441.1:p.Thr306= | |
| NM_001352300.2:c.915G>A | NP_001339229.1:p.Thr305= | |
| NR_147957.2:n.876G>A | ||
| NM_001352301.2:c.828G>A | NP_001339230.1:p.Thr276= | |
| NM_001352302.2:c.630G>A | NP_001339231.1:p.Thr210= | |
| NM_001352303.2:c.822G>A | NP_001339232.1:p.Thr274= |