gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5465130C>T , CM000671.2:g.5465130C>T | GRCh38 |
| NC_000009.11:g.5465130C>T , CM000671.1:g.5465130C>T | GRCh37 |
| NC_000009.10:g.5455130C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.683-369C>T MANE Select | ENSP00000370989.3:n.683-369C>T | |
| ENST00000381573.8:c.341-369C>T | ENSP00000370985.4:n.341-369C>T | |
| ENST00000381577.3:c.683-369C>T | ENSP00000370989.3:n.683-369C>T | |
| ENST00000492923.1:n.188-369C>T | ||
| ENST00000498261.1:n.577-369C>T | ||
| NM_001267706.1:c.341-369C>T | NP_001254635.1:n.341-369C>T | |
| NM_014143.3:c.683-369C>T | NP_054862.1:n.683-369C>T | |
| NR_052005.1:n.685-369C>T | ||
| XM_006716759.2:c.*40-369C>T | XP_006716822.1:n.*40-369C>T | |
| NM_014143.4:c.683-369C>T MANE Select | NP_054862.1:n.683-369C>T | |
| NR_052005.2:n.646-369C>T | ||
| NM_001267706.2:c.341-369C>T | NP_001254635.1:n.341-369C>T |