Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119870778T>C , CM000685.2:g.119870778T>C | GRCh38 |
| NC_000023.10:g.119004741T>C , CM000685.1:g.119004741T>C | GRCh37 |
| NC_000023.9:g.118888769T>C | NCBI36 |
| NG_009381.1:g.4008T>C | |
| NG_021227.1:g.6051A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371442.4:c.836A>G MANE Select | ENSP00000360497.2:p.His279Arg | |
| ENST00000371442.3:c.836A>G | ENSP00000360497.2:p.His279Arg | |
| NM_006978.2:c.836A>G | NP_008909.1:p.His279Arg | |
| NM_006978.3:c.836A>G MANE Select | NP_008909.1:p.His279Arg |