Linked Data
ClinVar Variation Id:
201707
ClinVar RCV Id:
RCV000544077
dbSNP Id:
rs375218723
ExAC:
2:220286161 C / T
gnomAD v2:
2-220286161-C-T
gnomAD v3:
2-219421439-C-T
gnomAD v4:
2-219421439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421439C>T , CM000664.2:g.219421439C>T | GRCh38 |
| NC_000002.11:g.220286161C>T , CM000664.1:g.220286161C>T | GRCh37 |
| NC_000002.10:g.219994405C>T | NCBI36 |
| NG_008043.1:g.8063C>T , LRG_380:g.8063C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.597C>T | ||
| ENST00000683013.1:n.511C>T | ||
| ENST00000373960.4:c.1123C>T MANE Select | ENSP00000363071.3:p.Arg375Trp | |
| ENST00000373960.3:c.1123C>T | ENSP00000363071.3:p.Arg375Trp | |
| ENST00000477226.5:n.595C>T | ||
| ENST00000492726.1:n.518C>T | ||
| NM_001927.3:c.1123C>T , LRG_380t1:c.1123C>T | NP_001918.3:p.Arg375Trp | |
| NM_001927.4:c.1123C>T MANE Select | NP_001918.3:p.Arg375Trp | |
| NM_001382708.1:c.1120C>T | NP_001369637.1:p.Arg374Trp | |
| NM_001382709.1:c.736-45C>T | NP_001369638.1:n.736-45C>T | |
| NM_001382710.1:c.1054C>T | NP_001369639.1:p.Arg352Trp | |
| NM_001382711.1:c.1102C>T | NP_001369640.1:p.Arg368Trp | |
| NM_001382712.1:c.1123C>T | NP_001369641.1:p.Arg375Trp | |
| NM_001382713.1:c.853C>T | NP_001369642.1:p.Arg285Trp |