Linked Data
ClinVar Variation Id:
201703
dbSNP Id:
rs794728985
gnomAD v2:
2-220285313-C-T
gnomAD v3:
2-219420591-C-T
gnomAD v4:
2-219420591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420591C>T , CM000664.2:g.219420591C>T | GRCh38 |
| NC_000002.11:g.220285313C>T , CM000664.1:g.220285313C>T | GRCh37 |
| NC_000002.10:g.219993557C>T | NCBI36 |
| NG_008043.1:g.7215C>T , LRG_380:g.7215C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.306C>T | ||
| ENST00000683013.1:n.220C>T | ||
| ENST00000373960.4:c.832C>T MANE Select | ENSP00000363071.3:p.Arg278Trp | |
| ENST00000373960.3:c.832C>T | ENSP00000363071.3:p.Arg278Trp | |
| ENST00000477226.5:n.304C>T | ||
| ENST00000492726.1:n.227C>T | ||
| NM_001927.3:c.832C>T , LRG_380t1:c.832C>T | NP_001918.3:p.Arg278Trp | |
| NM_001927.4:c.832C>T MANE Select | NP_001918.3:p.Arg278Trp | |
| NM_001382708.1:c.829C>T | NP_001369637.1:p.Arg277Trp | |
| NM_001382709.1:c.735+245C>T | NP_001369638.1:n.735+245C>T | |
| NM_001382710.1:c.832C>T | NP_001369639.1:p.Arg278Trp | |
| NM_001382711.1:c.832C>T | NP_001369640.1:p.Arg278Trp | |
| NM_001382712.1:c.832C>T | NP_001369641.1:p.Arg278Trp | |
| NM_001382713.1:c.562C>T | NP_001369642.1:p.Arg188Trp |