Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2319711G>A , CM000678.2:g.2319711G>A | GRCh38 |
| NC_000016.9:g.2369712G>A , CM000678.1:g.2369712G>A | GRCh37 |
| NC_000016.8:g.2309713G>A | NCBI36 |
| NG_011790.1:g.26036C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.743C>T MANE Select | NP_001080.2:p.Pro248Leu |
| ENST00000301732.10:c.743C>T MANE Select | ENSP00000301732.5:p.Pro248Leu |
| NM_001089.2:c.743C>T | NP_001080.2:p.Pro248Leu |
| ENST00000301732.9:c.743C>T | ENSP00000301732.5:p.Pro248Leu |
| ENST00000382381.7:c.743C>T | ENSP00000371818.3:p.Pro248Leu |
| ENST00000563623.5:n.1306C>T |