Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56105699G>C , CM000673.2:g.56105699G>C | GRCh38 |
| NC_000011.9:g.55873175G>C , CM000673.1:g.55873175G>C | GRCh37 |
| NC_000011.8:g.55629751G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386064.1:c.657G>C MANE Select | NP_001372993.1:p.Val219= |
| ENST00000313503.2:c.657G>C MANE Select | ENSP00000323982.1:p.Val219= |
| NM_001005200.1:c.657G>C | NP_001005200.1:p.Val219= |
| NM_001005200.2:c.657G>C | NP_001005200.1:p.Val219= |
| ENST00000313503.1:c.657G>C | ENSP00000323982.1:p.Val219= |
| ENST00000618136.1:c.654G>C | ENSP00000482661.1:p.Val218= |
| ENST00000641311.1:c.657G>C | ENSP00000493031.1:p.Val219= |