Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140459539T= , CM000665.2:g.140459539T= | GRCh38 |
| NC_000003.11:g.140178381T= , CM000665.1:g.140178381T= | GRCh37 |
| NC_000003.10:g.141661071T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022131.3:c.992T= MANE Select | NP_071414.2:p.Ile331= |
| ENST00000458420.7:c.992T= MANE Select | ENSP00000402460.2:p.Ile331= |
| NM_022131.2:c.992T= | NP_071414.2:p.Ile331= |
| ENST00000511524.1:n.1180T= | |
| ENST00000620185.1:c.800T= | ENSP00000478883.1:p.Ile267= |
| XM_017007022.2:c.917T= | XP_016862511.1:p.Ile306= |
| XR_924548.1:n.49-4786A= | |
| XR_924548.2:n.1503-4786A= | |
| XR_924549.1:n.49-4786A= | |
| XR_924549.2:n.1503-4786A= |