Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920106G= , CM000679.2:g.74920106G= | GRCh38 |
| NC_000017.10:g.72916201G= , CM000679.1:g.72916201G= | GRCh37 |
| NC_000017.9:g.70427796G= | NCBI36 |
| NG_007882.1:g.8151C= | |
| NG_033062.1:g.832G= | |
| NG_007882.2:g.8158C= | |
| NG_033062.2:g.832G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.730C= MANE Select | ENSP00000480279.1:p.Leu244= | |
| ENST00000579243.1:c.*329C= | ENSP00000462568.1:n.*329C= | |
| ENST00000614341.4:c.730C= | ENSP00000480279.1:p.Leu244= | |
| NM_001282489.2:c.421C= | NP_001269418.1:p.Leu141= | |
| NM_173477.4:c.730C= | NP_775748.2:p.Leu244= | |
| XM_011524296.1:c.421C= | XP_011522598.1:p.Leu141= | |
| XM_011524296.2:c.421C= | XP_011522598.1:p.Leu141= | |
| NM_173477.5:c.730C= MANE Select | NP_775748.2:p.Leu244= | |
| NM_001282489.3:c.421C= | NP_001269418.1:p.Leu141= |