Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204163510T>A , CM000663.2:g.204163510T>A | GRCh38 |
| NC_000001.10:g.204132638T>A , CM000663.1:g.204132638T>A | GRCh37 |
| NC_000001.9:g.202399261T>A | NCBI36 |
| NG_012122.1:g.7828A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000537.4:c.99-1347A>T MANE Select | NP_000528.1:n.99-1347A>T |
| ENST00000272190.9:c.99-1347A>T MANE Select | ENSP00000272190.8:n.99-1347A>T |
| NM_000537.3:c.99-1347A>T | NP_000528.1:n.99-1347A>T |
| ENST00000272190.8:c.99-1347A>T | ENSP00000272190.8:n.99-1347A>T |
| ENST00000638118.1:c.-16-1347A>T | ENSP00000490307.1:n.-16-1347A>T |