Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438202C>T , CM000682.2:g.35438202C>T | GRCh38 |
| NC_000020.10:g.34025982C>T , CM000682.1:g.34025982C>T | GRCh37 |
| NC_000020.9:g.33489396C>T | NCBI36 |
| NG_008076.2:g.5018G>A | |
| NG_008076.3:g.21545G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.-274G>A MANE Select | ENSP00000363489.3:n.-274G>A | |
| ENST00000374369.7:c.-274G>A | ENSP00000363489.3:n.-274G>A | |
| ENST00000374372.1:c.-241-33G>A | ENSP00000363492.1:n.-241-33G>A | |
| XM_011529075.1:c.-241-33G>A | XP_011527377.1:n.-241-33G>A | |
| XM_011529076.1:c.-241-33G>A | XP_011527378.1:n.-241-33G>A | |
| NM_001319138.1:c.-241-33G>A | NP_001306067.1:n.-241-33G>A | |
| NM_000557.5:c.-274G>A MANE Select | NP_000548.2:n.-274G>A | |
| NM_001319138.2:c.-241-33G>A | NP_001306067.1:n.-241-33G>A |