Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133807811C>T , CM000665.2:g.133807811C>T | GRCh38 |
| NC_000003.11:g.133526655C>T , CM000665.1:g.133526655C>T | GRCh37 |
| NC_000003.10:g.135009345C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379313.1:c.315C>T MANE Select | NP_001366242.1:p.Val105= |
| ENST00000678299.1:c.315C>T MANE Select | ENSP00000503923.1:p.Val105= |
| NM_021203.3:c.315C>T | NP_067026.3:p.Val105= |
| NM_021203.4:c.315C>T | NP_067026.3:p.Val105= |
| NR_163491.1:n.349C>T | |
| ENST00000466490.6:c.315C>T | ENSP00000418401.1:p.Val105= |
| ENST00000466490.7:c.315C>T | ENSP00000418401.1:p.Val105= |
| ENST00000494297.5:n.217C>T |