Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3136473G>A , CM000681.2:g.3136473G>A | GRCh38 |
| NC_000019.9:g.3136471G>A , CM000681.1:g.3136471G>A | GRCh37 |
| NC_000019.8:g.3087471G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002068.4:c.23G>A MANE Select | NP_002059.3:p.Arg8His |
| ENST00000262958.4:c.23G>A MANE Select | ENSP00000262958.2:p.Arg8His |
| NM_002068.3:c.23G>A | NP_002059.3:p.Arg8His |
| ENST00000262958.3:c.23G>A | ENSP00000262958.2:p.Arg8His |
| ENST00000592455.1:c.23G>A | ENSP00000467256.1:p.Arg8His |