Linked Data
dbSNP Id:
rs1591100947
gnomAD v4:
11-67586523-C-T
MyVariant Identifiers:
chr11:g.67353994C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586523C>T , CM000673.2:g.67586523C>T | GRCh38 |
| NC_000011.9:g.67353994C>T , CM000673.1:g.67353994C>T | GRCh37 |
| NC_000011.8:g.67110570C>T | NCBI36 |
| NG_012075.1:g.7929C>T , LRG_723:g.7929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.471C>T | ENSP00000381604.1:p.Phe157= | |
| ENST00000398606.10:c.579C>T MANE Select | ENSP00000381607.3:p.Phe193= | |
| ENST00000398603.5:c.471C>T | ENSP00000381604.1:p.Phe157= | |
| ENST00000398606.7:c.579C>T | ENSP00000381607.3:p.Phe193= | |
| ENST00000467591.1:n.690C>T | ||
| ENST00000494593.1:n.1551C>T | ||
| ENST00000498765.5:c.642C>T | ||
| NM_000852.3:c.579C>T , LRG_723t1:c.579C>T | NP_000843.1:p.Phe193= | |
| NM_000852.4:c.579C>T MANE Select | NP_000843.1:p.Phe193= |