Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1529875T>C , CM000685.2:g.1529875T>C | GRCh38 |
| NC_000023.10:g.1648768T>C , CM000685.1:g.1648768T>C | GRCh37 |
| NC_000023.9:g.1608768T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381297.10:c.-25+7046A>G MANE Select | ENSP00000370697.4:n.-25+7046A>G | |
| ENST00000381297.9:c.-25+7046A>G | ENSP00000370697.4:n.-25+7046A>G | |
| XM_006724443.2:c.374+7046A>G | XP_006724506.2:n.374+7046A>G | |
| XM_011546178.1:c.-112+7046A>G | XP_011544480.1:n.-112+7046A>G | |
| XM_006724443.3:c.374+7046A>G | XP_006724506.2:n.374+7046A>G | |
| XM_011546178.2:c.-112+7046A>G | XP_011544480.1:n.-112+7046A>G |