Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20143113G>A , CM000675.2:g.20143113G>A | GRCh38 |
| NC_000013.10:g.20717252G>A , CM000675.1:g.20717252G>A | GRCh37 |
| NC_000013.9:g.19615252G>A | NCBI36 |
| NG_016399.1:g.22932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.176C>T MANE Select | ENSP00000241125.3:p.Pro59Leu | |
| ENST00000241125.3:c.176C>T | ENSP00000241125.3:p.Pro59Leu | |
| NM_021954.3:c.176C>T | NP_068773.2:p.Pro59Leu | |
| XM_005266353.1:c.176C>T | XP_005266410.1:p.Pro59Leu | |
| XM_011535048.1:c.176C>T | XP_011533350.1:p.Pro59Leu | |
| XM_011535048.2:c.176C>T | XP_011533350.1:p.Pro59Leu | |
| NM_021954.4:c.176C>T MANE Select | NP_068773.2:p.Pro59Leu |