Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164982422G>A , CM000665.2:g.164982422G>A | GRCh38 |
| NC_000003.11:g.164700210G>A , CM000665.1:g.164700210G>A | GRCh37 |
| NC_000003.10:g.166182904G>A | NCBI36 |
| NG_017043.1:g.101074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.5248-12C>T MANE Select | ENSP00000264382.3:n.5248-12C>T | |
| ENST00000264382.7:c.5248-12C>T | ENSP00000264382.3:n.5248-12C>T | |
| NM_001041.3:c.5248-12C>T | NP_001032.2:n.5248-12C>T | |
| XM_011513078.1:c.5149-12C>T | XP_011511380.1:n.5149-12C>T | |
| XM_011513078.2:c.5149-12C>T | XP_011511380.1:n.5149-12C>T | |
| NM_001041.4:c.5248-12C>T MANE Select | NP_001032.2:n.5248-12C>T |