Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426439G>A , CM000669.2:g.94426439G>A | GRCh38 |
| NC_000007.13:g.94055751G>A , CM000669.1:g.94055751G>A | GRCh37 |
| NC_000007.12:g.93893687G>A | NCBI36 |
| NG_007405.1:g.36879G>A , LRG_2:g.36879G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3014G>A MANE Select | NP_000080.2:p.Arg1005His |
| ENST00000297268.11:c.3014G>A MANE Select | ENSP00000297268.6:p.Arg1005His |
| NM_000089.3:c.3014G>A , LRG_2t1:c.3014G>A | NP_000080.2:p.Arg1005His |
| ENST00000297268.10:c.3014G>A | ENSP00000297268.6:p.Arg1005His |
| ENST00000478215.1:n.573G>A | |
| ENST00000481570.5:n.2987G>A | |
| ENST00000620463.1:c.3008G>A | ENSP00000477719.1:p.Arg1003His |