Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130381087A>T , CM000669.2:g.130381087A>T | GRCh38 |
| NC_000007.13:g.130020928A>T , CM000669.1:g.130020928A>T | GRCh37 |
| NC_000007.12:g.129808164A>T | NCBI36 |
| NG_042276.1:g.5717A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.66-11A>T MANE Select | NP_001859.1:n.66-11A>T |
| ENST00000011292.8:c.66-11A>T MANE Select | ENSP00000011292.3:n.66-11A>T |
| NM_001868.3:c.66-11A>T | NP_001859.1:n.66-11A>T |
| ENST00000011292.7:c.66-11A>T | ENSP00000011292.3:n.66-11A>T |
| ENST00000476062.5:c.-199-11A>T | ENSP00000419408.1:n.-199-11A>T |
| ENST00000481342.5:c.-199-11A>T | ENSP00000420218.1:n.-199-11A>T |
| ENST00000491460.5:n.93-11A>T | |
| ENST00000604896.5:c.93-11A>T | ENSP00000475021.1:n.93-11A>T |