Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315493C>T , CM000675.2:g.32315493C>T | GRCh38 |
| NC_000013.10:g.32889630C>T , CM000675.1:g.32889630C>T | GRCh37 |
| NC_000013.9:g.31787630C>T | NCBI36 |
| NG_012772.3:g.5014C>T , LRG_293:g.5014C>T | |
| NG_017006.1:g.1462G>A | |
| NG_017006.2:g.4871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+348C>T | ENSP00000439902.1:n.-40+348C>T | |
| ENST00000380152.7:c.-214C>T | ENSP00000369497.3:n.-214C>T | |
| ENST00000544455.5:c.-214C>T | ENSP00000439902.1:n.-214C>T | |
| NM_000059.3:c.-214C>T , LRG_293t1:c.-214C>T | NP_000050.2:n.-214C>T | |
| XM_011535203.1:c.-40+348C>T | XP_011533505.1:n.-40+348C>T | |
| XM_011535204.1:c.-214C>T | XP_011533506.1:n.-214C>T | |
| XM_011535205.1:c.-214C>T | XP_011533507.1:n.-214C>T |