Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170106515C>A , CM000667.2:g.170106515C>A | GRCh38 |
| NC_000005.9:g.169533519C>A , CM000667.1:g.169533519C>A | GRCh37 |
| NC_000005.8:g.169466097C>A | NCBI36 |
| NG_012068.1:g.5603C>A | |
| NG_012068.2:g.5603C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012188.5:c.558C>A MANE Select | NP_036320.2:p.Arg186= |
| ENST00000306268.8:c.558C>A MANE Select | ENSP00000304286.5:p.Arg186= |
| NM_012188.4:c.558C>A | NP_036320.2:p.Arg186= |
| NM_144769.2:c.558C>A | NP_658982.1:p.Arg186= |
| NM_144769.3:c.558C>A | NP_658982.1:p.Arg186= |
| NM_144769.4:c.558C>A | NP_658982.1:p.Arg186= |
| ENST00000306268.6:c.558C>A | ENSP00000304286.5:p.Arg186= |
| ENST00000449804.3:c.558C>A | ENSP00000415483.2:p.Arg186= |
| ENST00000449804.4:c.558C>A | ENSP00000415483.2:p.Arg186= |
| XR_941092.1:n.619C>A |