Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30921038A>T , CM000675.2:g.30921038A>T | GRCh38 |
| NC_000013.10:g.31495175A>T , CM000675.1:g.31495175A>T | GRCh37 |
| NC_000013.9:g.30393175A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380482.9:c.413A>T (MEDAG) MANE Select | ENSP00000369849.4:p.Asn138Ile | |
| ENST00000380482.8:c.413A>T (MEDAG) | ENSP00000369849.4:p.Asn138Ile | |
| ENST00000428944.1:c.223A>T (MEDAG) | ||
| NM_032849.3:c.413A>T (MEDAG) | NP_116238.2:p.Asn138Ile | |
| NR_038287.1:n.1437+9763T>A (TEX26-AS1) | ||
| XR_941683.1:n.905A>T (MEDAG) | ||
| XM_017020801.1:c.-41A>T (MEDAG) | XP_016876290.1:n.-41A>T | |
| NM_032849.4:c.413A>T (MEDAG) MANE Select | NP_116238.3:p.Asn138Ile |