Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586521T>C , CM000673.2:g.67586521T>C | GRCh38 |
| NC_000011.9:g.67353992T>C , CM000673.1:g.67353992T>C | GRCh37 |
| NC_000011.8:g.67110568T>C | NCBI36 |
| NG_012075.1:g.7927T>C , LRG_723:g.7927T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.469T>C | ENSP00000381604.1:p.Phe157Leu | |
| ENST00000398606.10:c.577T>C MANE Select | ENSP00000381607.3:p.Phe193Leu | |
| ENST00000398603.5:c.469T>C | ENSP00000381604.1:p.Phe157Leu | |
| ENST00000398606.7:c.577T>C | ENSP00000381607.3:p.Phe193Leu | |
| ENST00000467591.1:n.688T>C | ||
| ENST00000494593.1:n.1549T>C | ||
| ENST00000498765.5:c.640T>C | ||
| NM_000852.3:c.577T>C , LRG_723t1:c.577T>C | NP_000843.1:p.Phe193Leu | |
| NM_000852.4:c.577T>C MANE Select | NP_000843.1:p.Phe193Leu |