Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30921636G>T , CM000675.2:g.30921636G>T | GRCh38 |
| NC_000013.10:g.31495773G>T , CM000675.1:g.31495773G>T | GRCh37 |
| NC_000013.9:g.30393773G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032849.4:c.577G>T (MEDAG) MANE Select | NP_116238.3:p.Ala193Ser |
| ENST00000380482.9:c.577G>T (MEDAG) MANE Select | ENSP00000369849.4:p.Ala193Ser |
| NM_032849.3:c.577G>T (MEDAG) | NP_116238.2:p.Ala193Ser |
| NR_038287.1:n.1437+9165C>A (TEX26-AS1) | |
| ENST00000380482.8:c.577G>T (MEDAG) | ENSP00000369849.4:p.Ala193Ser |
| ENST00000428944.1:c.311+510G>T (MEDAG) | |
| XM_017020801.1:c.124G>T (MEDAG) | XP_016876290.1:p.Ala42Ser |