Linked Data
dbSNP Id:
rs1940826777
gnomAD v4:
12-21176836-C-T
COSMIC:
COSM3871269
MyVariant Identifiers:
chr12:g.21329770C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176836C>T , CM000674.2:g.21176836C>T | GRCh38 |
| NC_000012.11:g.21329770C>T , CM000674.1:g.21329770C>T | GRCh37 |
| NC_000012.10:g.21221037C>T | NCBI36 |
| NG_011745.1:g.50643C>T , LRG_1022:g.50643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.420C>T MANE Select | ENSP00000256958.2:p.Ser140= | |
| ENST00000256958.2:c.420C>T | ENSP00000256958.2:p.Ser140= | |
| ENST00000543498.5:c.486C>T | ||
| NM_006446.4:c.420C>T , LRG_1022t1:c.420C>T | NP_006437.3:p.Ser140= | |
| NM_006446.5:c.420C>T MANE Select | NP_006437.3:p.Ser140= |