Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942686A>G , CM000678.2:g.67942686A>G | GRCh38 |
| NC_000016.9:g.67976589A>G , CM000678.1:g.67976589A>G | GRCh37 |
| NC_000016.8:g.66534090A>G | NCBI36 |
| NG_009778.1:g.6427T>C | |
| NG_033098.1:g.31009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.508T>C MANE Select | ENSP00000264005.5:p.Trp170Arg | |
| ENST00000264005.9:c.508T>C | ENSP00000264005.5:p.Trp170Arg | |
| ENST00000570369.5:c.155+175T>C | ||
| ENST00000570980.1:c.292T>C | ENSP00000464651.1:p.Trp98Arg | |
| ENST00000573538.5:c.151T>C | ENSP00000463220.1:p.Trp51Arg | |
| ENST00000573846.1:n.122T>C | ||
| ENST00000575277.1:n.286T>C | ||
| ENST00000575467.5:c.*203T>C | ENSP00000460653.1:n.*203T>C | |
| NM_000229.1:c.508T>C | NP_000220.1:p.Trp170Arg | |
| NM_000229.2:c.508T>C MANE Select | NP_000220.1:p.Trp170Arg |