Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50984473C>T , CM000680.2:g.50984473C>T | GRCh38 |
| NC_000018.9:g.48510843C>T , CM000680.1:g.48510843C>T | GRCh37 |
| NC_000018.8:g.46764841C>T | NCBI36 |
| NG_013013.2:g.21434C>T , LRG_318:g.21434C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018696.3:c.535C>T MANE Select | NP_061166.1:p.Arg179Cys |
| ENST00000269466.8:c.535C>T MANE Select | ENSP00000269466.3:p.Arg179Cys |
| NM_018696.2:c.535C>T | NP_061166.1:p.Arg179Cys |
| ENST00000269466.7:c.535C>T | ENSP00000269466.3:p.Arg179Cys |
| ENST00000588256.1:n.258-14C>T | |
| ENST00000588577.5:c.158-14C>T | ENSP00000467389.1:n.158-14C>T |
| ENST00000590722.2:c.157+9912C>T | ENSP00000465737.1:n.157+9912C>T |
| ENST00000591429.1:c.535C>T | ENSP00000464770.1:p.Arg179Cys |
| XR_001753449.2:n.162-133G>A |