Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594430G>C , CM000679.2:g.56594430G>C | GRCh38 |
| NC_000017.10:g.54671791G>C , CM000679.1:g.54671791G>C | GRCh37 |
| NC_000017.9:g.52026790G>C | NCBI36 |
| NG_011958.1:g.5732G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.207G>C MANE Select | ENSP00000328181.4:p.Leu69= | |
| ENST00000332822.4:c.207G>C | ENSP00000328181.4:p.Leu69= | |
| NM_005450.4:c.207G>C | NP_005441.1:p.Leu69= | |
| NM_005450.6:c.207G>C MANE Select | NP_005441.1:p.Leu69= |