Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61544156C>T , CM000667.2:g.61544156C>T | GRCh38 |
| NC_000005.9:g.60839983C>T , CM000667.1:g.60839983C>T | GRCh37 |
| NC_000005.8:g.60875740C>T | NCBI36 |
| NG_053150.1:g.216884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.3487C>T MANE Select | ENSP00000252744.5:p.Arg1163Trp | |
| ENST00000252744.5:c.3487C>T | ENSP00000252744.5:p.Arg1163Trp | |
| NM_020928.1:c.3487C>T | NP_065979.1:p.Arg1163Trp | |
| XM_011543524.1:c.2350C>T | XP_011541826.1:p.Arg784Trp | |
| XM_017009677.1:c.2347C>T | XP_016865166.1:p.Arg783Trp | |
| XM_024446139.1:c.2584C>T | XP_024301907.1:p.Arg862Trp | |
| XM_024446140.1:c.1672C>T | XP_024301908.1:p.Arg558Trp | |
| NM_020928.2:c.3487C>T MANE Select | NP_065979.1:p.Arg1163Trp |