Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788385C>T , CM000664.2:g.135788385C>T | GRCh38 |
| NC_000002.11:g.136545955C>T , CM000664.1:g.136545955C>T | GRCh37 |
| NC_000002.10:g.136262425C>T | NCBI36 |
| NG_008104.2:g.71785G>A , LRG_338:g.71785G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.5723G>A MANE Select | NP_002290.2:p.Arg1908His |
| ENST00000264162.7:c.5723G>A MANE Select | ENSP00000264162.2:p.Arg1908His |
| NM_002299.2:c.5723G>A , LRG_338t1:c.5723G>A | NP_002290.2:p.Arg1908His |
| NM_002299.3:c.5723G>A | NP_002290.2:p.Arg1908His |
| ENST00000264162.6:c.5723G>A | ENSP00000264162.2:p.Arg1908His |