Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151267282T>A , CM000667.2:g.151267282T>A | GRCh38 |
| NC_000005.9:g.150646843T>A , CM000667.1:g.150646843T>A | GRCh37 |
| NC_000005.8:g.150627036T>A | NCBI36 |
| NG_009059.1:g.19231T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.427-14T>A MANE Select | NP_000396.2:n.427-14T>A |
| ENST00000357164.4:c.427-14T>A MANE Select | ENSP00000349687.3:n.427-14T>A |
| NM_000405.4:c.427-14T>A | NP_000396.2:n.427-14T>A |
| NM_001167607.1:c.413-210T>A | NP_001161079.1:n.413-210T>A |
| NM_001167607.2:c.413-210T>A | NP_001161079.1:n.413-210T>A |
| NM_001167607.3:c.413-210T>A | NP_001161079.1:n.413-210T>A |
| ENST00000357164.3:c.427-14T>A | ENSP00000349687.3:n.427-14T>A |