Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315487G>C , CM000675.2:g.32315487G>C | GRCh38 |
| NC_000013.10:g.32889624G>C , CM000675.1:g.32889624G>C | GRCh37 |
| NC_000013.9:g.31787624G>C | NCBI36 |
| NG_012772.3:g.5008G>C , LRG_293:g.5008G>C | |
| NG_017006.1:g.1468C>G | |
| NG_017006.2:g.4877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+342G>C | ENSP00000439902.1:n.-40+342G>C | |
| ENST00000380152.7:c.-220G>C | ENSP00000369497.3:n.-220G>C | |
| ENST00000544455.5:c.-220G>C | ENSP00000439902.1:n.-220G>C | |
| NM_000059.3:c.-220G>C , LRG_293t1:c.-220G>C | NP_000050.2:n.-220G>C | |
| XM_011535203.1:c.-40+342G>C | XP_011533505.1:n.-40+342G>C | |
| XM_011535204.1:c.-220G>C | XP_011533506.1:n.-220G>C | |
| XM_011535205.1:c.-220G>C | XP_011533507.1:n.-220G>C |