Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88639183T>C , CM000678.2:g.88639183T>C | GRCh38 |
| NC_000016.9:g.88705591T>C , CM000678.1:g.88705591T>C | GRCh37 |
| NC_000016.8:g.87233092T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244241.5:c.209T>C MANE Select | ENSP00000244241.4:p.Leu70Pro | |
| ENST00000244241.4:c.209T>C | ENSP00000244241.4:p.Leu70Pro | |
| ENST00000569133.1:n.593T>C | ||
| NM_013278.3:c.209T>C | NP_037410.1:p.Leu70Pro | |
| NM_013278.4:c.209T>C MANE Select | NP_037410.1:p.Leu70Pro |