Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61119441C>T , CM000673.2:g.61119441C>T | GRCh38 |
| NC_000011.9:g.60886913C>T , CM000673.1:g.60886913C>T | GRCh37 |
| NC_000011.8:g.60643489C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014207.4:c.671C>T MANE Select | NP_055022.2:p.Pro224Leu |
| ENST00000347785.8:c.671C>T MANE Select | ENSP00000342681.3:p.Pro224Leu |
| NM_001346456.1:c.500C>T | NP_001333385.1:p.Pro167Leu |
| NM_001346456.2:c.500C>T | NP_001333385.1:p.Pro167Leu |
| NM_014207.3:c.671C>T | NP_055022.2:p.Pro224Leu |
| ENST00000347785.7:c.671C>T | ENSP00000342681.3:p.Pro224Leu |