Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259833G= , CM000667.2:g.151259833G= | GRCh38 |
| NC_000005.9:g.150639394G= , CM000667.1:g.150639394G= | GRCh37 |
| NC_000005.8:g.150619587G= | NCBI36 |
| NG_009059.1:g.11782G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.160G= MANE Select | NP_000396.2:p.Glu54= |
| ENST00000357164.4:c.160G= MANE Select | ENSP00000349687.3:p.Glu54= |
| NM_000405.4:c.160G= | NP_000396.2:p.Glu54= |
| NM_001167607.1:c.160G= | NP_001161079.1:p.Glu54= |
| NM_001167607.2:c.160G= | NP_001161079.1:p.Glu54= |
| NM_001167607.3:c.160G= | NP_001161079.1:p.Glu54= |
| ENST00000357164.3:c.160G= | ENSP00000349687.3:p.Glu54= |
| ENST00000523004.1:c.35G= | |
| ENST00000523466.5:c.205G= | ENSP00000429100.1:p.Glu69= |