Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315499C>G , CM000675.2:g.32315499C>G | GRCh38 |
| NC_000013.10:g.32889636C>G , CM000675.1:g.32889636C>G | GRCh37 |
| NC_000013.9:g.31787636C>G | NCBI36 |
| NG_012772.3:g.5020C>G , LRG_293:g.5020C>G | |
| NG_017006.1:g.1456G>C | |
| NG_017006.2:g.4865G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+354C>G | ENSP00000439902.1:n.-40+354C>G | |
| ENST00000380152.7:c.-208C>G | ENSP00000369497.3:n.-208C>G | |
| ENST00000544455.5:c.-208C>G | ENSP00000439902.1:n.-208C>G | |
| NM_000059.3:c.-208C>G , LRG_293t1:c.-208C>G | NP_000050.2:n.-208C>G | |
| XM_011535203.1:c.-40+354C>G | XP_011533505.1:n.-40+354C>G | |
| XM_011535204.1:c.-208C>G | XP_011533506.1:n.-208C>G | |
| XM_011535205.1:c.-208C>G | XP_011533507.1:n.-208C>G |