Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151266729A>T , CM000667.2:g.151266729A>T | GRCh38 |
| NC_000005.9:g.150646290A>T , CM000667.1:g.150646290A>T | GRCh37 |
| NC_000005.8:g.150626483A>T | NCBI36 |
| NG_009059.1:g.18678A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.244-2A>T MANE Select | NP_000396.2:n.244-2A>T |
| ENST00000357164.4:c.244-2A>T MANE Select | ENSP00000349687.3:n.244-2A>T |
| NM_000405.4:c.244-2A>T | NP_000396.2:n.244-2A>T |
| NM_001167607.1:c.244-2A>T | NP_001161079.1:n.244-2A>T |
| NM_001167607.2:c.244-2A>T | NP_001161079.1:n.244-2A>T |
| NM_001167607.3:c.244-2A>T | NP_001161079.1:n.244-2A>T |
| ENST00000357164.3:c.244-2A>T | ENSP00000349687.3:n.244-2A>T |
| ENST00000523004.1:c.119-2A>T | |
| ENST00000523466.5:c.289-2A>T | ENSP00000429100.1:n.289-2A>T |