Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.97014940C>T , CM000667.2:g.97014940C>T | GRCh38 |
| NC_000005.9:g.96350644C>T , CM000667.1:g.96350644C>T | GRCh37 |
| NC_000005.8:g.96376400C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231368.10:c.2221C>T MANE Select | ENSP00000231368.5:p.Leu741= | |
| ENST00000231368.9:c.2221C>T | ENSP00000231368.5:p.Leu741= | |
| ENST00000395770.3:c.2179C>T | ENSP00000379117.3:p.Leu727= | |
| NM_005575.2:c.2221C>T | NP_005566.2:p.Leu741= | |
| NM_175920.3:c.2179C>T | NP_787116.2:p.Leu727= | |
| XM_024446045.1:c.2221C>T | XP_024301813.1:p.Leu741= | |
| NM_005575.3:c.2221C>T MANE Select | NP_005566.2:p.Leu741= | |
| NM_175920.4:c.2179C>T | NP_787116.2:p.Leu727= |