Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618540A= , CM000664.2:g.233618540A= | GRCh38 |
| NC_000002.11:g.234527186A= , CM000664.1:g.234527186A= | GRCh37 |
| NC_000002.10:g.234191925A= | NCBI36 |
| NG_002601.2:g.33797A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.833A= MANE Select | ENSP00000362549.4:p.His278= | |
| ENST00000373450.4:c.833A= | ENSP00000362549.4:p.His278= | |
| NM_019076.4:c.833A= | NP_061949.3:p.His278= | |
| NM_019076.5:c.833A= MANE Select | NP_061949.3:p.His278= |