Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911251T>C , CM000679.2:g.42911251T>C | GRCh38 |
| NC_000017.10:g.41063268T>C , CM000679.1:g.41063268T>C | GRCh37 |
| NC_000017.9:g.38316794T>C | NCBI36 |
| NG_011808.1:g.15454T>C , LRG_147:g.15454T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.899T>C MANE Select | ENSP00000253801.1:p.Val300Ala | |
| ENST00000253801.6:c.899T>C | ENSP00000253801.1:p.Val300Ala | |
| ENST00000585489.1:c.*291T>C | ENSP00000466202.1:n.*291T>C | |
| ENST00000592383.5:c.*291T>C | ENSP00000465958.1:n.*291T>C | |
| NM_000151.3:c.899T>C | NP_000142.2:p.Val300Ala | |
| NM_001270397.1:c.*291T>C | NP_001257326.1:n.*291T>C | |
| NM_000151.4:c.899T>C MANE Select | NP_000142.2:p.Val300Ala | |
| NM_001270397.2:c.*291T>C | NP_001257326.1:n.*291T>C |