Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406810C>A , CM000666.2:g.47406810C>A | GRCh38 |
| NC_000004.11:g.47408827C>A , CM000666.1:g.47408827C>A | GRCh37 |
| NC_000004.10:g.47103584C>A | NCBI36 |
| NG_051831.1:g.380533C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.964C>A MANE Select | ENSP00000295454.3:p.Leu322Met | |
| ENST00000295454.7:c.964C>A | ENSP00000295454.3:p.Leu322Met | |
| NM_000812.3:c.964C>A | NP_000803.2:p.Leu322Met | |
| XM_011513678.1:c.943C>A | XP_011511980.1:p.Leu315Met | |
| XM_017007985.1:c.313C>A | XP_016863474.1:p.Leu105Met | |
| XM_024453976.1:c.865C>A | XP_024309744.1:p.Leu289Met | |
| XM_024453977.1:c.865C>A | XP_024309745.1:p.Leu289Met | |
| XM_024453978.1:c.865C>A | XP_024309746.1:p.Leu289Met | |
| NM_000812.4:c.964C>A MANE Select | NP_000803.2:p.Leu322Met |