Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138468946T>A , CM000667.2:g.138468946T>A | GRCh38 |
| NC_000005.9:g.137804635T>A , CM000667.1:g.137804635T>A | GRCh37 |
| NC_000005.8:g.137832534T>A | NCBI36 |
| NG_021374.1:g.8455T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001964.3:c.*865T>A MANE Select | NP_001955.1:n.*865T>A |
| ENST00000239938.5:c.*865T>A MANE Select | ENSP00000239938.4:n.*865T>A |
| NM_001964.2:c.*865T>A | NP_001955.1:n.*865T>A |
| ENST00000239938.4:c.*865T>A | ENSP00000239938.4:n.*865T>A |