Linked Data
dbSNP Id:
rs1407197550
gnomAD v2:
6-32410986-C-T
gnomAD v4:
6-32443209-C-T
COSMIC:
COSM3872992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443209C>T , CM000668.2:g.32443209C>T | GRCh38 |
| NC_000006.11:g.32410986C>T , CM000668.1:g.32410986C>T | GRCh37 |
| NC_000006.10:g.32518964C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.353C>T MANE Select | ENSP00000378786.2:p.Thr118Ile | |
| ENST00000374982.5:c.329-51C>T | ENSP00000364121.5:n.329-51C>T | |
| ENST00000395388.6:c.353C>T | ENSP00000378786.2:p.Thr118Ile | |
| NM_019111.4:c.353C>T | NP_061984.2:p.Thr118Ile | |
| NM_019111.5:c.353C>T MANE Select | NP_061984.2:p.Thr118Ile |