Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165059246A>G , CM000665.2:g.165059246A>G | GRCh38 |
| NC_000003.11:g.164777034A>G , CM000665.1:g.164777034A>G | GRCh37 |
| NC_000003.10:g.166259728A>G | NCBI36 |
| NG_017043.1:g.24250T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.1200T>C MANE Select | NP_001032.2:p.Tyr400= |
| ENST00000264382.8:c.1200T>C MANE Select | ENSP00000264382.3:p.Tyr400= |
| NM_001041.3:c.1200T>C | NP_001032.2:p.Tyr400= |
| ENST00000264382.7:c.1200T>C | ENSP00000264382.3:p.Tyr400= |
| XM_011513078.1:c.1101T>C | XP_011511380.1:p.Tyr367= |
| XM_011513078.2:c.1101T>C | XP_011511380.1:p.Tyr367= |