Linked Data
dbSNP Id:
rs1867469168
gnomAD v3:
11-67586466-C-T
gnomAD v4:
11-67586466-C-T
MyVariant Identifiers:
chr11:g.67353937C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586466C>T , CM000673.2:g.67586466C>T | GRCh38 |
| NC_000011.9:g.67353937C>T , CM000673.1:g.67353937C>T | GRCh37 |
| NC_000011.8:g.67110513C>T | NCBI36 |
| NG_012075.1:g.7872C>T , LRG_723:g.7872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.414C>T | ENSP00000381604.1:p.Phe138= | |
| ENST00000398606.10:c.522C>T MANE Select | ENSP00000381607.3:p.Phe174= | |
| ENST00000646888.1:c.*238C>T | ENSP00000494477.1:n.*238C>T | |
| ENST00000398603.5:c.414C>T | ENSP00000381604.1:p.Phe138= | |
| ENST00000398606.7:c.522C>T | ENSP00000381607.3:p.Phe174= | |
| ENST00000467591.1:n.633C>T | ||
| ENST00000494593.1:n.1494C>T | ||
| ENST00000498765.5:c.585C>T | ||
| NM_000852.3:c.522C>T , LRG_723t1:c.522C>T | NP_000843.1:p.Phe174= | |
| NM_000852.4:c.522C>T MANE Select | NP_000843.1:p.Phe174= |