Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59443732G>T , CM000673.2:g.59443732G>T | GRCh38 |
| NC_000011.9:g.59211205G>T , CM000673.1:g.59211205G>T | GRCh37 |
| NC_000011.8:g.58967781G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641045.1:c.564G>T MANE Select | ENSP00000493195.1:p.Leu188= | |
| ENST00000302030.2:c.564G>T | ENSP00000303096.2:p.Leu188= | |
| NM_001004728.1:c.564G>T | NP_001004728.1:p.Leu188= | |
| XM_011544810.1:c.564G>T | XP_011543112.1:p.Leu188= | |
| NM_001004728.2:c.564G>T MANE Select | NP_001004728.1:p.Leu188= |