Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41571482C>A , CM000679.2:g.41571482C>A | GRCh38 |
| NC_000017.10:g.39727734C>A , CM000679.1:g.39727734C>A | GRCh37 |
| NC_000017.9:g.36981260C>A | NCBI36 |
| NG_008300.1:g.5577G>T | |
| NG_008300.2:g.5577G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000226.4:c.511G>T MANE Select | NP_000217.2:p.Val171Leu |
| ENST00000246662.9:c.511G>T MANE Select | ENSP00000246662.4:p.Val171Leu |
| NM_000226.3:c.511G>T | NP_000217.2:p.Val171Leu |
| ENST00000246662.8:c.511G>T | ENSP00000246662.4:p.Val171Leu |
| ENST00000588431.1:c.-189G>T | ENSP00000467932.1:n.-189G>T |