Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30921709T>C , CM000675.2:g.30921709T>C | GRCh38 |
| NC_000013.10:g.31495846T>C , CM000675.1:g.31495846T>C | GRCh37 |
| NC_000013.9:g.30393846T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032849.4:c.650T>C (MEDAG) MANE Select | NP_116238.3:p.Val217Ala |
| ENST00000380482.9:c.650T>C (MEDAG) MANE Select | ENSP00000369849.4:p.Val217Ala |
| NM_032849.3:c.650T>C (MEDAG) | NP_116238.2:p.Val217Ala |
| NR_038287.1:n.1437+9092A>G (TEX26-AS1) | |
| ENST00000380482.8:c.650T>C (MEDAG) | ENSP00000369849.4:p.Val217Ala |
| ENST00000428944.1:c.311+583T>C (MEDAG) | |
| XM_017020801.1:c.197T>C (MEDAG) | XP_016876290.1:p.Val66Ala |