Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41571505C>T , CM000679.2:g.41571505C>T | GRCh38 |
| NC_000017.10:g.39727757C>T , CM000679.1:g.39727757C>T | GRCh37 |
| NC_000017.9:g.36981283C>T | NCBI36 |
| NG_008300.1:g.5554G>A | |
| NG_008300.2:g.5554G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000226.4:c.488G>A MANE Select | NP_000217.2:p.Arg163Gln |
| ENST00000246662.9:c.488G>A MANE Select | ENSP00000246662.4:p.Arg163Gln |
| NM_000226.3:c.488G>A | NP_000217.2:p.Arg163Gln |
| ENST00000246662.8:c.488G>A | ENSP00000246662.4:p.Arg163Gln |
| ENST00000588431.1:c.-189-23G>A | ENSP00000467932.1:n.-189-23G>A |