dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27882900C>A , CM000670.2:g.27882900C>A | GRCh38 |
| NC_000008.10:g.27740417C>A , CM000670.1:g.27740417C>A | GRCh37 |
| NC_000008.9:g.27796336C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354914.8:c.1154-3134G>T MANE Select | ENSP00000346990.3:n.1154-3134G>T | |
| ENST00000354914.7:c.1154-3134G>T | ENSP00000346990.3:n.1154-3134G>T | |
| ENST00000380385.6:c.479-3134G>T | ENSP00000369746.2:n.479-3134G>T | |
| NM_173833.5:c.1154-3134G>T | NP_776194.2:n.1154-3134G>T | |
| NM_173833.6:c.1154-3134G>T MANE Select | NP_776194.2:n.1154-3134G>T |