Linked Data
ClinVar Variation Id:
650248
dbSNP Id:
rs762714876
ExAC:
22:19906519 A / G
gnomAD v2:
22-19906519-A-G
gnomAD v4:
22-19918996-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918996A>G , CM000684.2:g.19918996A>G | GRCh38 |
| NC_000022.10:g.19906519A>G , CM000684.1:g.19906519A>G | GRCh37 |
| NC_000022.9:g.18286519A>G | NCBI36 |
| NG_011835.1:g.27841T>C , LRG_417:g.27841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.238T>C MANE Select | ENSP00000383365.1:p.Trp80Arg | |
| ENST00000334363.14:c.238T>C | ENSP00000334451.9:p.Trp80Arg | |
| ENST00000400518.5:c.148T>C | ENSP00000383362.1:p.Trp50Arg | |
| ENST00000400519.6:c.235T>C | ENSP00000383363.1:p.Trp79Arg | |
| ENST00000400521.6:c.238T>C | ENSP00000383365.1:p.Trp80Arg | |
| ENST00000400525.6:c.169T>C | ENSP00000383369.3:p.Trp57Arg | |
| ENST00000474308.5:c.181T>C | ENSP00000485665.1:p.Trp61Arg | |
| ENST00000491939.6:c.142T>C | ENSP00000485543.1:p.Trp48Arg | |
| ENST00000496729.2:n.243T>C | ||
| ENST00000542719.6:c.-51T>C | ENSP00000485128.2:n.-51T>C | |
| NM_001282512.1:c.238T>C | NP_001269441.1:p.Trp80Arg | |
| NM_006440.4:c.238T>C | NP_006431.2:p.Trp80Arg | |
| NM_001282512.2:c.238T>C | NP_001269441.1:p.Trp80Arg | |
| NM_001352300.1:c.235T>C | NP_001339229.1:p.Trp79Arg | |
| NM_001352301.1:c.148T>C | NP_001339230.1:p.Trp50Arg | |
| NM_001352302.1:c.-51T>C | NP_001339231.1:n.-51T>C | |
| NM_001352303.1:c.142T>C | NP_001339232.1:p.Trp48Arg | |
| NR_147957.1:n.370T>C | ||
| NM_006440.5:c.238T>C MANE Select | NP_006431.2:p.Trp80Arg | |
| NM_001282512.3:c.238T>C | NP_001269441.1:p.Trp80Arg | |
| NM_001352300.2:c.235T>C | NP_001339229.1:p.Trp79Arg | |
| NR_147957.2:n.196T>C | ||
| NM_001352301.2:c.148T>C | NP_001339230.1:p.Trp50Arg | |
| NM_001352302.2:c.-51T>C | NP_001339231.1:n.-51T>C | |
| NM_001352303.2:c.142T>C | NP_001339232.1:p.Trp48Arg |