Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150851702G>A , CM000669.2:g.150851702G>A | GRCh38 |
| NC_000007.13:g.150548790G>A , CM000669.1:g.150548790G>A | GRCh37 |
| NC_000007.12:g.150179723G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467291.5:c.-92-413G>A | ENSP00000418328.1:n.-92-413G>A | |
| ENST00000493429.5:c.-92-413G>A | ENSP00000418614.1:n.-92-413G>A | |
| XM_011516008.1:c.-181-413G>A | XP_011514310.1:n.-181-413G>A | |
| XM_011516009.1:c.-92-413G>A | XP_011514311.1:n.-92-413G>A | |
| XR_928169.1:n.296-10257C>T | ||
| XR_928170.1:n.426-10257C>T | ||
| XR_928171.1:n.298-10257C>T | ||
| XM_017011944.1:c.-92-413G>A | XP_016867433.1:n.-92-413G>A | |
| XM_017011945.1:c.-92-413G>A | XP_016867434.1:n.-92-413G>A | |
| XR_928169.2:n.302-10257C>T | ||
| XR_928171.2:n.302-10257C>T |