Linked Data
ClinVar Variation Id:
953258
ClinVar RCV Id:
RCV001225519
dbSNP Id:
rs57965306
COSMIC:
COSM6156989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421365G>T , CM000664.2:g.219421365G>T | GRCh38 |
| NC_000002.11:g.220286087G>T , CM000664.1:g.220286087G>T | GRCh37 |
| NC_000002.10:g.219994331G>T | NCBI36 |
| NG_008043.1:g.7989G>T , LRG_380:g.7989G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.523G>T | ||
| ENST00000683013.1:n.437G>T | ||
| ENST00000373960.4:c.1049G>T MANE Select | ENSP00000363071.3:p.Arg350Leu | |
| ENST00000373960.3:c.1049G>T | ENSP00000363071.3:p.Arg350Leu | |
| ENST00000477226.5:n.521G>T | ||
| ENST00000492726.1:n.444G>T | ||
| NM_001927.3:c.1049G>T , LRG_380t1:c.1049G>T | NP_001918.3:p.Arg350Leu | |
| NM_001927.4:c.1049G>T MANE Select | NP_001918.3:p.Arg350Leu | |
| NM_001382708.1:c.1046G>T | NP_001369637.1:p.Arg349Leu | |
| NM_001382709.1:c.736-119G>T | NP_001369638.1:n.736-119G>T | |
| NM_001382710.1:c.1024-44G>T | NP_001369639.1:n.1024-44G>T | |
| NM_001382711.1:c.1028G>T | NP_001369640.1:p.Arg343Leu | |
| NM_001382712.1:c.1049G>T | NP_001369641.1:p.Arg350Leu | |
| NM_001382713.1:c.779G>T | NP_001369642.1:p.Arg260Leu |