Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315507C= , CM000675.2:g.32315507C= | GRCh38 |
| NC_000013.10:g.32889644C= , CM000675.1:g.32889644C= | GRCh37 |
| NC_000013.9:g.31787644C= | NCBI36 |
| NG_012772.3:g.5028C= , LRG_293:g.5028C= | |
| NG_017006.1:g.1448G= | |
| NG_017006.2:g.4857G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530893.7:c.-565C= | ENSP00000499438.2:n.-565C= | |
| ENST00000544455.6:c.-40+362C= | ENSP00000439902.1:n.-40+362C= | |
| ENST00000380152.7:c.-200C= | ENSP00000369497.3:n.-200C= | |
| ENST00000530893.6:n.3C= | ||
| ENST00000544455.5:c.-200C= | ENSP00000439902.1:n.-200C= | |
| NM_000059.3:c.-200C= , LRG_293t1:c.-200C= | NP_000050.2:n.-200C= | |
| XM_011535203.1:c.-40+362C= | XP_011533505.1:n.-40+362C= | |
| XM_011535204.1:c.-200C= | XP_011533506.1:n.-200C= | |
| XM_011535205.1:c.-200C= | XP_011533507.1:n.-200C= |