Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122077723C>T , CM000667.2:g.122077723C>T | GRCh38 |
| NC_000005.9:g.121413418C>T , CM000667.1:g.121413418C>T | GRCh37 |
| NC_000005.8:g.121441317C>T | NCBI36 |
| NG_008722.1:g.5638G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002317.7:c.263G>A MANE Select | NP_002308.2:p.Arg88His |
| ENST00000231004.5:c.263G>A MANE Select | ENSP00000231004.4:p.Arg88His |
| NM_002317.5:c.263G>A | NP_002308.2:p.Arg88His |
| NM_002317.6:c.263G>A | NP_002308.2:p.Arg88His |
| ENST00000231004.4:c.263G>A | ENSP00000231004.4:p.Arg88His |
| ENST00000639739.2:c.263G>A | ENSP00000492324.2:p.Arg88His |