Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759995T>C , CM000686.2:g.20759995T>C | GRCh38 |
| NC_000024.9:g.22921881T>C , CM000686.1:g.22921881T>C | GRCh37 |
| NC_000024.8:g.21331269T>C | NCBI36 |
| NG_032924.1:g.8928T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.209T>C MANE Select | ENSP00000486252.1:p.Leu70Pro | |
| ENST00000629237.1:c.209T>C | ENSP00000486252.1:p.Leu70Pro | |
| NM_001039567.2:c.209T>C | NP_001034656.1:p.Leu70Pro | |
| XM_011531423.1:c.158T>C | XP_011529725.1:p.Leu53Pro | |
| NM_001039567.3:c.209T>C MANE Select | NP_001034656.1:p.Leu70Pro |