Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585139G>T , CM000673.2:g.67585139G>T | GRCh38 |
| NC_000011.9:g.67352610G>T , CM000673.1:g.67352610G>T | GRCh37 |
| NC_000011.8:g.67109186G>T | NCBI36 |
| NG_012075.1:g.6545G>T , LRG_723:g.6545G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.234G>T | ENSP00000381604.1:p.Gly78= | |
| ENST00000398606.10:c.234G>T MANE Select | ENSP00000381607.3:p.Gly78= | |
| ENST00000646888.1:c.127G>T | ENSP00000494477.1:p.Ala43Ser | |
| ENST00000398603.5:c.234G>T | ENSP00000381604.1:p.Gly78= | |
| ENST00000398606.7:c.234G>T | ENSP00000381607.3:p.Gly78= | |
| ENST00000467591.1:n.345G>T | ||
| ENST00000494593.1:n.1029G>T | ||
| ENST00000498765.5:c.297G>T | ||
| NM_000852.3:c.234G>T , LRG_723t1:c.234G>T | NP_000843.1:p.Gly78= | |
| NM_000852.4:c.234G>T MANE Select | NP_000843.1:p.Gly78= |