Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191887C= , CM000666.2:g.186191887C= | GRCh38 |
| NC_000004.11:g.187113041C= , CM000666.1:g.187113041C= | GRCh37 |
| NC_000004.10:g.187350035C= | NCBI36 |
| NG_007965.1:g.5368C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.64C= MANE Select | NP_997235.3:p.Leu22= |
| ENST00000378802.5:c.64C= MANE Select | ENSP00000368079.4:p.Leu22= |
| NM_207352.3:c.64C= | NP_997235.3:p.Leu22= |
| ENST00000378802.4:c.64C= | ENSP00000368079.4:p.Leu22= |
| XM_005262935.2:c.64C= | XP_005262992.1:p.Leu22= |
| XM_005262935.4:c.64C= | XP_005262992.1:p.Leu22= |
| XM_017008037.1:c.-247C= | XP_016863526.1:n.-247C= |