Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586526G>C , CM000673.2:g.67586526G>C | GRCh38 |
| NC_000011.9:g.67353997G>C , CM000673.1:g.67353997G>C | GRCh37 |
| NC_000011.8:g.67110573G>C | NCBI36 |
| NG_012075.1:g.7932G>C , LRG_723:g.7932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.474G>C | ENSP00000381604.1:p.Leu158= | |
| ENST00000398606.10:c.582G>C MANE Select | ENSP00000381607.3:p.Leu194= | |
| ENST00000398603.5:c.474G>C | ENSP00000381604.1:p.Leu158= | |
| ENST00000398606.7:c.582G>C | ENSP00000381607.3:p.Leu194= | |
| ENST00000467591.1:n.693G>C | ||
| ENST00000494593.1:n.1554G>C | ||
| ENST00000498765.5:c.645G>C | ||
| NM_000852.3:c.582G>C , LRG_723t1:c.582G>C | NP_000843.1:p.Leu194= | |
| NM_000852.4:c.582G>C MANE Select | NP_000843.1:p.Leu194= |