Linked Data
dbSNP Id:
rs747015092
gnomAD v2:
22-28146920-C-T
gnomAD v4:
22-27750932-C-T
COSMIC:
COSM4880079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750932C>T , CM000684.2:g.27750932C>T | GRCh38 |
| NC_000022.10:g.28146920C>T , CM000684.1:g.28146920C>T | GRCh37 |
| NC_000022.9:g.26476920C>T | NCBI36 |
| NG_023258.1:g.55567G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.471G>A | ||
| ENST00000302326.5:c.3946G>A MANE Select | ENSP00000304956.4:p.Val1316Met | |
| ENST00000302326.4:c.3946G>A | ENSP00000304956.4:p.Val1316Met | |
| ENST00000424656.1:c.299G>A | ||
| ENST00000497225.1:n.302G>A | ||
| NM_002430.2:c.3946G>A | NP_002421.3:p.Val1316Met | |
| NM_002430.3:c.3946G>A MANE Select | NP_002421.3:p.Val1316Met |