Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860170G= , CM000668.2:g.31860170G= | GRCh38 |
| NC_000006.11:g.31827947G= , CM000668.1:g.31827947G= | GRCh37 |
| NC_000006.10:g.31935926G= | NCBI36 |
| NG_008201.1:g.7763C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.893C= MANE Select | NP_000425.1:p.Ala298= |
| ENST00000375631.5:c.893C= MANE Select | ENSP00000364782.4:p.Ala298= |
| NM_000434.3:c.893C= | NP_000425.1:p.Ala298= |
| ENST00000375631.4:c.893C= | ENSP00000364782.4:p.Ala298= |
| ENST00000480384.1:n.1096C= | |
| ENST00000491768.5:c.*3C= | ENSP00000433127.1:n.*3C= |
| ENST00000495807.1:n.2201C= | |
| ENST00000677054.1:n.2136C= | |
| ENST00000677512.1:n.1175C= | |
| ENST00000678869.1:n.1481C= |