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