Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96411659A>T , CM000667.2:g.96411659A>T | GRCh38 |
| NC_000005.9:g.95747363A>T , CM000667.1:g.95747363A>T | GRCh37 |
| NC_000005.8:g.95773119A>T | NCBI36 |
| NG_021161.1:g.26623T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000439.5:c.882+659T>A MANE Select | NP_000430.3:n.882+659T>A |
| ENST00000311106.8:c.882+659T>A MANE Select | ENSP00000308024.2:n.882+659T>A |
| NM_000439.4:c.882+659T>A | NP_000430.3:n.882+659T>A |
| NM_001177875.1:c.741+659T>A | NP_001171346.1:n.741+659T>A |
| NM_001177875.2:c.741+659T>A | NP_001171346.1:n.741+659T>A |
| NR_130776.1:n.354+32007A>T | |
| ENST00000311106.7:c.882+659T>A | ENSP00000308024.2:n.882+659T>A |
| ENST00000508626.5:c.741+659T>A | ENSP00000421600.1:n.741+659T>A |
| ENST00000513085.1:n.238+659T>A |