Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862306T>A , CM000675.2:g.23862306T>A | GRCh38 |
| NC_000013.10:g.24436445T>A , CM000675.1:g.24436445T>A | GRCh37 |
| NC_000013.9:g.23334445T>A | NCBI36 |
| NG_052977.1:g.32143A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1049A>T MANE Select | ENSP00000371607.3:p.Asn350Ile | |
| ENST00000382172.3:c.1049A>T | ENSP00000371607.3:p.Asn350Ile | |
| ENST00000494139.1:n.446A>T | ||
| NM_005932.3:c.1049A>T | NP_005923.2:p.Asn350Ile | |
| XM_011535097.1:c.863A>T | XP_011533399.1:p.Asn288Ile | |
| XM_011535098.1:c.1049A>T | XP_011533400.1:p.Asn350Ile | |
| XM_011535097.2:c.863A>T | XP_011533399.1:p.Asn288Ile | |
| XM_011535098.3:c.1049A>T | XP_011533400.1:p.Asn350Ile | |
| NM_005932.4:c.1049A>T MANE Select | NP_005923.3:p.Asn350Ile |