Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164982357C>T , CM000665.2:g.164982357C>T | GRCh38 |
| NC_000003.11:g.164700145C>T , CM000665.1:g.164700145C>T | GRCh37 |
| NC_000003.10:g.166182839C>T | NCBI36 |
| NG_017043.1:g.101139G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.5301G>A MANE Select | NP_001032.2:p.Thr1767= |
| ENST00000264382.8:c.5301G>A MANE Select | ENSP00000264382.3:p.Thr1767= |
| NM_001041.3:c.5301G>A | NP_001032.2:p.Thr1767= |
| ENST00000264382.7:c.5301G>A | ENSP00000264382.3:p.Thr1767= |
| XM_011513078.1:c.5202G>A | XP_011511380.1:p.Thr1734= |
| XM_011513078.2:c.5202G>A | XP_011511380.1:p.Thr1734= |