Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766910A>G , CM000681.2:g.45766910A>G | GRCh38 |
| NC_000019.9:g.46270168A>G , CM000681.1:g.46270168A>G | GRCh37 |
| NC_000019.8:g.50962008A>G | NCBI36 |
| NG_012745.1:g.7330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1049T>C MANE Select | ENSP00000316842.4:p.Leu350Pro | |
| ENST00000317578.6:c.1049T>C | ENSP00000316842.4:p.Leu350Pro | |
| ENST00000560160.1:c.587-799T>C | ||
| ENST00000560168.1:c.*237T>C | ENSP00000453189.2:n.*237T>C | |
| ENST00000622857.1:c.16-948T>C | ENSP00000481365.1:n.16-948T>C | |
| NM_175875.4:c.1049T>C | NP_787071.2:p.Leu350Pro | |
| NM_175875.5:c.1049T>C MANE Select | NP_787071.3:p.Leu350Pro |