Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586552C>T , CM000673.2:g.67586552C>T | GRCh38 |
| NC_000011.9:g.67354023C>T , CM000673.1:g.67354023C>T | GRCh37 |
| NC_000011.8:g.67110599C>T | NCBI36 |
| NG_012075.1:g.7958C>T , LRG_723:g.7958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.500C>T | ENSP00000381604.1:p.Pro167Leu | |
| ENST00000398606.10:c.608C>T MANE Select | ENSP00000381607.3:p.Pro203Leu | |
| ENST00000398603.5:c.500C>T | ENSP00000381604.1:p.Pro167Leu | |
| ENST00000398606.7:c.608C>T | ENSP00000381607.3:p.Pro203Leu | |
| ENST00000467591.1:n.719C>T | ||
| ENST00000494593.1:n.1580C>T | ||
| ENST00000498765.5:c.671C>T | ||
| NM_000852.3:c.608C>T , LRG_723t1:c.608C>T | NP_000843.1:p.Pro203Leu | |
| NM_000852.4:c.608C>T MANE Select | NP_000843.1:p.Pro203Leu |