Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624459C>A , CM000670.2:g.64624459C>A | GRCh38 |
| NC_000008.10:g.65537016C>A , CM000670.1:g.65537016C>A | GRCh37 |
| NC_000008.9:g.65699570C>A | NCBI36 |
| NG_008338.1:g.179333G>T | |
| NG_008338.2:g.179333G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.203G>T MANE Select | ENSP00000310721.3:p.Arg68Met | |
| ENST00000310193.3:c.203G>T | ENSP00000310721.3:p.Arg68Met | |
| NM_004820.3:c.203G>T | NP_004811.1:p.Arg68Met | |
| NM_001324112.1:c.203G>T | NP_001311041.1:p.Arg68Met | |
| NM_004820.4:c.203G>T | NP_004811.1:p.Arg68Met | |
| XM_017014002.1:c.269G>T | XP_016869491.1:p.Arg90Met | |
| NM_004820.5:c.203G>T MANE Select | NP_004811.1:p.Arg68Met | |
| NM_001324112.2:c.203G>T | NP_001311041.1:p.Arg68Met |