Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72032174G>T , CM000674.2:g.72032174G>T | GRCh38 |
| NC_000012.11:g.72425954G>T , CM000674.1:g.72425954G>T | GRCh37 |
| NC_000012.10:g.70712221G>T | NCBI36 |
| NG_008279.1:g.98329G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.*479G>T MANE Select | NP_775489.2:n.*479G>T |
| ENST00000333850.4:c.*479G>T MANE Select | ENSP00000329093.3:n.*479G>T |
| NM_173353.3:c.*479G>T | NP_775489.2:n.*479G>T |
| ENST00000333850.3:c.*479G>T | ENSP00000329093.3:n.*479G>T |
| ENST00000547278.1:n.78+783G>T | |
| ENST00000547348.5:n.100+783G>T | |
| ENST00000550403.5:n.120+783G>T | |
| ENST00000551074.5:n.93+783G>T | |
| XM_011537899.1:c.*479G>T | XP_011536201.1:n.*479G>T |