Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315475G= , CM000675.2:g.32315475G= | GRCh38 |
| NC_000013.10:g.32889612G= , CM000675.1:g.32889612G= | GRCh37 |
| NC_000013.9:g.31787612G= | NCBI36 |
| NG_012772.3:g.4996G= , LRG_293:g.4996G= | |
| NG_017006.1:g.1480C= | |
| NG_017006.2:g.4889C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+330G= | ENSP00000439902.1:n.-40+330G= | |
| ENST00000380152.7:c.-232G= | ENSP00000369497.3:n.-232G= | |
| XM_011535203.1:c.-40+330G= | XP_011533505.1:n.-40+330G= | |
| XM_011535204.1:c.-232G= | XP_011533506.1:n.-232G= | |
| XM_011535205.1:c.-232G= | XP_011533507.1:n.-232G= |