Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406686C>G , CM000666.2:g.47406686C>G | GRCh38 |
| NC_000004.11:g.47408703C>G , CM000666.1:g.47408703C>G | GRCh37 |
| NC_000004.10:g.47103460C>G | NCBI36 |
| NG_051831.1:g.380409C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.840C>G MANE Select | ENSP00000295454.3:p.Ile280Met | |
| ENST00000295454.7:c.840C>G | ENSP00000295454.3:p.Ile280Met | |
| NM_000812.3:c.840C>G | NP_000803.2:p.Ile280Met | |
| XM_011513678.1:c.819C>G | XP_011511980.1:p.Ile273Met | |
| XM_017007985.1:c.189C>G | XP_016863474.1:p.Ile63Met | |
| XM_024453976.1:c.741C>G | XP_024309744.1:p.Ile247Met | |
| XM_024453977.1:c.741C>G | XP_024309745.1:p.Ile247Met | |
| XM_024453978.1:c.741C>G | XP_024309746.1:p.Ile247Met | |
| NM_000812.4:c.840C>G MANE Select | NP_000803.2:p.Ile280Met |