Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043388G>C , CM000674.2:g.56043388G>C | GRCh38 |
| NC_000012.11:g.56437172G>C , CM000674.1:g.56437172G>C | GRCh37 |
| NC_000012.10:g.54723439G>C | NCBI36 |
| NG_023201.1:g.6487G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.207G>C | ENSP00000348849.5:p.Val69= | |
| ENST00000646449.2:c.207G>C MANE Select | ENSP00000496643.1:p.Val69= | |
| ENST00000356464.9:c.207G>C | ENSP00000348849.5:p.Val69= | |
| ENST00000548590.1:n.994G>C | ||
| ENST00000552361.1:c.207G>C | ENSP00000450339.1:p.Val69= | |
| NM_001029.3:c.207G>C | NP_001020.2:p.Val69= | |
| NM_001029.5:c.207G>C MANE Select | NP_001020.2:p.Val69= |