Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130555A>G , CM000676.2:g.50130555A>G | GRCh38 |
| NC_000014.8:g.50597273A>G , CM000676.1:g.50597273A>G | GRCh37 |
| NC_000014.7:g.49667023A>G | NCBI36 |
| NG_051073.1:g.106139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3283T>C MANE Select | ENSP00000216373.5:p.Ser1095Pro | |
| ENST00000216373.9:c.3283T>C | ENSP00000216373.5:p.Ser1095Pro | |
| ENST00000543680.5:c.3184T>C | ENSP00000445328.1:p.Ser1062Pro | |
| NM_006939.2:c.3283T>C | NP_008870.2:p.Ser1095Pro | |
| XM_005268021.1:c.3103T>C | XP_005268078.1:p.Ser1035Pro | |
| XM_011537103.1:c.3244T>C | XP_011535405.1:p.Ser1082Pro | |
| NM_006939.3:c.3283T>C | NP_008870.2:p.Ser1095Pro | |
| NM_006939.4:c.3283T>C MANE Select | NP_008870.2:p.Ser1095Pro |