Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56973449T>C , CM000678.2:g.56973449T>C | GRCh38 |
| NC_000016.9:g.57007361T>C , CM000678.1:g.57007361T>C | GRCh37 |
| NC_000016.8:g.55564862T>C | NCBI36 |
| NG_008952.1:g.16527T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.869T>C MANE Select | NP_000069.2:p.Leu290Pro |
| ENST00000200676.8:c.869T>C MANE Select | ENSP00000200676.3:p.Leu290Pro |
| NM_000078.2:c.869T>C | NP_000069.2:p.Leu290Pro |
| NM_001286085.1:c.750+1366T>C | NP_001273014.1:n.750+1366T>C |
| NM_001286085.2:c.750+1366T>C | NP_001273014.1:n.750+1366T>C |
| ENST00000200676.7:c.869T>C | ENSP00000200676.3:p.Leu290Pro |
| ENST00000379780.6:c.750+1366T>C | ENSP00000369106.2:n.750+1366T>C |
| ENST00000566128.1:c.674T>C | ENSP00000456276.1:p.Leu225Pro |