Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93014694A>T , CM000677.2:g.93014694A>T | GRCh38 |
| NC_000015.9:g.93557924A>T , CM000677.1:g.93557924A>T | GRCh37 |
| NC_000015.8:g.91358928A>T | NCBI36 |
| NG_012826.1:g.119374A>T | |
| NG_012826.2:g.119374A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271.4:c.4693-2A>T MANE Select | NP_001262.3:n.4693-2A>T |
| ENST00000394196.9:c.4693-2A>T MANE Select | ENSP00000377747.4:n.4693-2A>T |
| NM_001271.3:c.4693-2A>T | NP_001262.3:n.4693-2A>T |
| ENST00000394196.8:c.4693-2A>T | ENSP00000377747.4:n.4693-2A>T |
| ENST00000625662.2:c.1096-2A>T | |
| ENST00000625662.3:c.4313-2A>T | |
| ENST00000626874.2:c.4693-2A>T | ENSP00000486629.1:n.4693-2A>T |
| ENST00000627460.1:c.18-2A>T |