Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406817A>G , CM000666.2:g.47406817A>G | GRCh38 |
| NC_000004.11:g.47408834A>G , CM000666.1:g.47408834A>G | GRCh37 |
| NC_000004.10:g.47103591A>G | NCBI36 |
| NG_051831.1:g.380540A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.971A>G MANE Select | ENSP00000295454.3:p.Tyr324Cys | |
| ENST00000295454.7:c.971A>G | ENSP00000295454.3:p.Tyr324Cys | |
| NM_000812.3:c.971A>G | NP_000803.2:p.Tyr324Cys | |
| XM_011513678.1:c.950A>G | XP_011511980.1:p.Tyr317Cys | |
| XM_017007985.1:c.320A>G | XP_016863474.1:p.Tyr107Cys | |
| XM_024453976.1:c.872A>G | XP_024309744.1:p.Tyr291Cys | |
| XM_024453977.1:c.872A>G | XP_024309745.1:p.Tyr291Cys | |
| XM_024453978.1:c.872A>G | XP_024309746.1:p.Tyr291Cys | |
| NM_000812.4:c.971A>G MANE Select | NP_000803.2:p.Tyr324Cys |