Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35437976G>T , CM000682.2:g.35437976G>T | GRCh38 |
| NG_008076.2:g.5244C>A | |
| NG_008076.3:g.21771C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000557.5:c.-48C>A MANE Select | NP_000548.2:n.-48C>A |
| ENST00000374369.8:c.-48C>A MANE Select | ENSP00000363489.3:n.-48C>A |
| NM_000557.4:c.-48C>A | NP_000548.2:n.-48C>A |
| NM_001319138.1:c.-48C>A | NP_001306067.1:n.-48C>A |
| NM_001319138.2:c.-48C>A | NP_001306067.1:n.-48C>A |
| ENST00000374369.7:c.-48C>A | ENSP00000363489.3:n.-48C>A |
| ENST00000374372.1:c.-48C>A | ENSP00000363492.1:n.-48C>A |
| XM_011529075.1:c.-48C>A | XP_011527377.1:n.-48C>A |
| XM_011529076.1:c.-48C>A | XP_011527378.1:n.-48C>A |