Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23682809C= , CM000670.2:g.23682809C= | GRCh38 |
| NC_000008.10:g.23540322C= , CM000670.1:g.23540322C= | GRCh37 |
| NC_000008.9:g.23596267C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380871.5:c.81G= MANE Select | ENSP00000370253.4:p.Thr27= | |
| ENST00000380871.4:c.81G= | ENSP00000370253.4:p.Thr27= | |
| ENST00000523261.1:c.33+48G= | ENSP00000429729.1:n.33+48G= | |
| NM_001256339.1:c.33+48G= | NP_001243268.1:n.33+48G= | |
| NM_006167.3:c.81G= | NP_006158.2:p.Thr27= | |
| NR_046072.1:n.18+95G= | ||
| XR_001745842.1:n.1312+14059C= | ||
| NM_006167.4:c.81G= MANE Select | NP_006158.2:p.Thr27= | |
| NR_046072.2:n.35+95G= |