Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911387C= , CM000679.2:g.42911387C= | GRCh38 |
| NC_000017.10:g.41063404C= , CM000679.1:g.41063404C= | GRCh37 |
| NC_000017.9:g.38316930C= | NCBI36 |
| NG_011808.1:g.15590C= , LRG_147:g.15590C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1035C= MANE Select | ENSP00000253801.1:p.Leu345= | |
| ENST00000253801.6:c.1035C= | ENSP00000253801.1:p.Leu345= | |
| ENST00000585489.1:c.*427C= | ENSP00000466202.1:n.*427C= | |
| NM_000151.3:c.1035C= | NP_000142.2:p.Leu345= | |
| NM_001270397.1:c.*427C= | NP_001257326.1:n.*427C= | |
| NM_000151.4:c.1035C= MANE Select | NP_000142.2:p.Leu345= | |
| NM_001270397.2:c.*427C= | NP_001257326.1:n.*427C= |