Linked Data
ClinVar Variation Id:
66402
dbSNP Id:
rs267607490
gnomAD v2:
2-220290456-C-T
gnomAD v4:
2-219425734-C-T
COSMIC:
COSM4772354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425734C>T , CM000664.2:g.219425734C>T | GRCh38 |
| NC_000002.11:g.220290456C>T , CM000664.1:g.220290456C>T | GRCh37 |
| NC_000002.10:g.219998700C>T | NCBI36 |
| NG_008043.1:g.12358C>T , LRG_380:g.12358C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.834C>T | ||
| ENST00000683013.1:n.748C>T | ||
| ENST00000373960.4:c.1360C>T MANE Select | ENSP00000363071.3:p.Arg454Trp | |
| ENST00000373960.3:c.1360C>T | ENSP00000363071.3:p.Arg454Trp | |
| ENST00000483395.1:n.215C>T | ||
| NM_001927.3:c.1360C>T , LRG_380t1:c.1360C>T | NP_001918.3:p.Arg454Trp | |
| NM_001927.4:c.1360C>T MANE Select | NP_001918.3:p.Arg454Trp | |
| NM_001382708.1:c.1357C>T | NP_001369637.1:p.Arg453Trp | |
| NM_001382709.1:c.928C>T | NP_001369638.1:p.Arg310Trp | |
| NM_001382710.1:c.1291C>T | NP_001369639.1:p.Arg431Trp | |
| NM_001382711.1:c.1339C>T | NP_001369640.1:p.Arg447Trp | |
| NM_001382712.1:c.1360C>T | NP_001369641.1:p.Arg454Trp | |
| NM_001382713.1:c.1090C>T | NP_001369642.1:p.Arg364Trp |