Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.18967840C>A , CM000676.2:g.18967840C>A | GRCh38 |
| NC_000014.8:g.20019866G>T , CM000676.1:g.20019866G>T | GRCh37 |
| NC_000014.7:g.19089866G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145442.1:c.355C>A MANE Select | NP_001138914.1:p.Pro119Thr |
| ENST00000547889.6:c.355C>A MANE Select | ENSP00000448062.2:p.Pro119Thr |
| ENST00000547889.5:c.355C>A | ENSP00000448062.2:p.Pro119Thr |
| ENST00000552966.5:c.355C>A | ENSP00000448581.1:p.Pro119Thr |
| ENST00000616847.1:c.355C>A | ENSP00000483980.1:p.Pro119Thr |