Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859838C= , CM000668.2:g.31859838C= | GRCh38 |
| NC_000006.11:g.31827615C= , CM000668.1:g.31827615C= | GRCh37 |
| NC_000006.10:g.31935594C= | NCBI36 |
| NG_008201.1:g.8095G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.1129G= MANE Select | NP_000425.1:p.Glu377= |
| ENST00000375631.5:c.1129G= MANE Select | ENSP00000364782.4:p.Glu377= |
| NM_000434.3:c.1129G= | NP_000425.1:p.Glu377= |
| ENST00000375631.4:c.1129G= | ENSP00000364782.4:p.Glu377= |
| ENST00000480384.1:n.1428G= | |
| ENST00000491768.5:c.*239G= | ENSP00000433127.1:n.*239G= |
| ENST00000495807.1:n.2437G= | |
| ENST00000677054.1:n.2468G= | |
| ENST00000677512.1:n.1406G= | |
| ENST00000678869.1:n.1717G= |