Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105143063G= , CM000676.2:g.105143063G= | GRCh38 |
| NC_000014.8:g.105609400G= , CM000676.1:g.105609400G= | GRCh37 |
| NC_000014.7:g.104680445G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002226.5:c.3349C= MANE Select | NP_002217.3:p.Arg1117= |
| ENST00000331782.8:c.3349C= MANE Select | ENSP00000328169.3:p.Arg1117= |
| NM_002226.4:c.3349C= | NP_002217.3:p.Arg1117= |
| NM_145159.2:c.3235C= | NP_660142.1:p.Arg1079= |
| NM_145159.3:c.3235C= | NP_660142.1:p.Arg1079= |
| ENST00000331782.7:c.3349C= | ENSP00000328169.3:p.Arg1117= |
| ENST00000347004.2:c.3235C= | ENSP00000328566.2:p.Arg1079= |
| ENST00000546616.1:n.967C= | |
| XR_001750303.2:n.3376C= |