Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833003C>T , CM000673.2:g.116833003C>T | GRCh38 |
| NC_000011.9:g.116703719C>T , CM000673.1:g.116703719C>T | GRCh37 |
| NC_000011.8:g.116208929C>T | NCBI36 |
| NG_008949.1:g.8096C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*119C>T MANE Select | ENSP00000227667.2:n.*119C>T | |
| ENST00000227667.7:c.*119C>T | ENSP00000227667.2:n.*119C>T | |
| ENST00000375345.3:c.*119C>T | ENSP00000364494.1:n.*119C>T | |
| ENST00000630701.1:c.473C>T | ENSP00000486182.1:n.473C>T | |
| NM_000040.1:c.*119C>T | NP_000031.1:n.*119C>T | |
| NM_000040.2:c.*119C>T | NP_000031.1:n.*119C>T | |
| NM_000040.3:c.*119C>T MANE Select | NP_000031.1:n.*119C>T |