Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3771598A>G , CM000681.2:g.3771598A>G | GRCh38 |
| NC_000019.9:g.3771596A>G , CM000681.1:g.3771596A>G | GRCh37 |
| NC_000019.8:g.3722596A>G | NCBI36 |
| NG_011565.1:g.5624T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001319074.4:c.145T>C MANE Select | NP_001306003.2:p.Ser49Pro |
| ENST00000555633.3:c.145T>C MANE Select | ENSP00000450456.3:p.Ser49Pro |
| NM_001319074.1:c.283T>C | NP_001306003.1:p.Ser95Pro |
| NM_032753.3:c.145T>C | NP_116142.1:p.Ser49Pro |
| NM_032753.4:c.145T>C | NP_116142.1:p.Ser49Pro |
| ENST00000555633.2:c.145T>C | ENSP00000450456.2:p.Ser49Pro |
| ENST00000555978.5:c.145T>C | ENSP00000450687.2:p.Ser49Pro |
| XM_005259662.1:c.283T>C | XP_005259719.1:p.Ser95Pro |