Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406906C= , CM000666.2:g.47406906C= | GRCh38 |
| NC_000004.11:g.47408923C= , CM000666.1:g.47408923C= | GRCh37 |
| NC_000004.10:g.47103680C= | NCBI36 |
| NG_051831.1:g.380629C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1060C= MANE Select | ENSP00000295454.3:p.Leu354= | |
| ENST00000295454.7:c.1060C= | ENSP00000295454.3:p.Leu354= | |
| NM_000812.3:c.1060C= | NP_000803.2:p.Leu354= | |
| XM_011513678.1:c.1039C= | XP_011511980.1:p.Leu347= | |
| XM_017007985.1:c.409C= | XP_016863474.1:p.Leu137= | |
| XM_024453976.1:c.961C= | XP_024309744.1:p.Leu321= | |
| XM_024453977.1:c.961C= | XP_024309745.1:p.Leu321= | |
| XM_024453978.1:c.961C= | XP_024309746.1:p.Leu321= | |
| NM_000812.4:c.1060C= MANE Select | NP_000803.2:p.Leu354= |