Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131023C= , CM000684.2:g.42131023C= | GRCh38 |
| NC_000022.10:g.42527025C= , CM000684.1:g.42527025C= | GRCh37 |
| NC_000022.9:g.40856969C= | NCBI36 |
| NG_008376.3:g.3969G= | |
| NG_008376.4:g.4788G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529966.1:c.-232G= | XP_011528268.1:n.-232G= |
| XM_011529967.1:c.-232G= | XP_011528269.1:n.-232G= |
| XM_011529968.1:c.-232G= | XP_011528270.1:n.-232G= |
| XM_011529969.1:c.37+274G= | XP_011528271.1:n.37+274G= |
| XM_011529970.1:c.-232G= | XP_011528272.1:n.-232G= |
| XM_011529971.1:c.37+274G= | XP_011528273.1:n.37+274G= |
| XM_011529972.1:c.-232G= | XP_011528274.1:n.-232G= |
| XR_002958749.1:n.275+335C= | |
| XR_430455.2:n.328+335C= |