ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27803304A>G , CM000670.2:g.27803304A>G | GRCh38 |
| NC_000008.10:g.27660821A>G , CM000670.1:g.27660821A>G | GRCh37 |
| NC_000008.9:g.27716740A>G | NCBI36 |
| NG_008117.1:g.33764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1674-2A>G MANE Select | ENSP00000306999.8:n.1674-2A>G | |
| ENST00000305188.12:c.1674-2A>G | ENSP00000306999.8:n.1674-2A>G | |
| ENST00000397418.4:c.618-2A>G | ENSP00000380563.2:n.618-2A>G | |
| ENST00000522378.5:c.*649-2A>G | ENSP00000428928.1:n.*649-2A>G | |
| NM_001017420.2:c.1674-2A>G | NP_001017420.1:n.1674-2A>G | |
| XM_011544421.1:c.1674-2A>G | XP_011542723.1:n.1674-2A>G | |
| XM_011544422.1:c.1674-2A>G | XP_011542724.1:n.1674-2A>G | |
| XR_949378.1:n.1758-2A>G | ||
| XR_949379.1:n.1758-2A>G | ||
| XM_011544421.2:c.1674-2A>G | XP_011542723.1:n.1674-2A>G | |
| XM_011544422.2:c.1674-2A>G | XP_011542724.1:n.1674-2A>G | |
| XR_949378.3:n.1758-2A>G | ||
| NM_001017420.3:c.1674-2A>G MANE Select | NP_001017420.1:n.1674-2A>G |