ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28710061T>C , CM000684.2:g.28710061T>C | GRCh38 |
| NC_000022.10:g.29106049T>C , CM000684.1:g.29106049T>C | GRCh37 |
| NC_000022.9:g.27436049T>C | NCBI36 |
| NG_008150.1:g.36774A>G | |
| NG_008150.2:g.36806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.702-2A>G | ENSP00000396903.2:n.702-2A>G | |
| ENST00000711048.1:c.793-2A>G | ENSP00000518557.1:n.793-2A>G | |
| ENST00000402731.6:c.592-2A>G | ENSP00000384835.2:n.592-2A>G | |
| ENST00000404276.6:c.793-2A>G MANE Select | ENSP00000385747.1:n.793-2A>G | |
| ENST00000425190.7:c.130-2A>G | ENSP00000390244.2:n.130-2A>G | |
| ENST00000464581.6:c.133-2A>G | ENSP00000483777.2:n.133-2A>G | |
| ENST00000648295.1:n.345-2A>G | ||
| ENST00000649563.1:c.130-2A>G | ENSP00000496928.1:n.130-2A>G | |
| ENST00000650281.1:c.793-2A>G | ENSP00000497000.1:n.793-2A>G | |
| ENST00000328354.10:c.793-2A>G | ENSP00000329178.6:n.793-2A>G | |
| ENST00000348295.7:c.793-2A>G | ENSP00000329012.5:n.793-2A>G | |
| ENST00000382580.6:c.922-2A>G | ENSP00000372023.2:n.922-2A>G | |
| ENST00000402731.5:c.793-2A>G | ENSP00000384835.1:n.793-2A>G | |
| ENST00000403642.5:c.520-2A>G | ENSP00000384919.1:n.520-2A>G | |
| ENST00000404276.5:c.793-2A>G | ENSP00000385747.1:n.793-2A>G | |
| ENST00000405598.5:c.793-2A>G | ENSP00000386087.1:n.793-2A>G | |
| ENST00000416671.5:c.*283-2A>G | ENSP00000402225.1:n.*283-2A>G | |
| ENST00000417588.5:c.702-2A>G | ENSP00000412901.1:n.702-2A>G | |
| ENST00000425190.6:c.130-2A>G | ENSP00000390244.1:n.130-2A>G | |
| ENST00000433028.6:c.*518-2A>G | ENSP00000403659.1:n.*518-2A>G | |
| ENST00000433728.5:c.793-2A>G | ENSP00000404400.1:n.793-2A>G | |
| ENST00000434810.5:c.24-2A>G | ||
| ENST00000439346.5:c.264-2A>G | ENSP00000396903.1:n.264-2A>G | |
| ENST00000447421.5:c.592-2A>G | ENSP00000397478.2:n.592-2A>G | |
| ENST00000448511.5:c.683-2A>G | ENSP00000404567.1:n.683-2A>G | |
| ENST00000456369.5:c.48-2A>G | ||
| ENST00000464581.5:c.133-2A>G | ENSP00000483777.1:n.133-2A>G | |
| ENST00000491919.5:n.350-2A>G | ||
| NM_001005735.1:c.922-2A>G | NP_001005735.1:n.922-2A>G | |
| NM_001257387.1:c.130-2A>G | NP_001244316.1:n.130-2A>G | |
| NM_007194.3:c.793-2A>G | NP_009125.1:n.793-2A>G | |
| NM_145862.2:c.793-2A>G | NP_665861.1:n.793-2A>G | |
| XM_006724114.2:c.313-2A>G | XP_006724177.1:n.313-2A>G | |
| XM_006724116.2:c.250-2A>G | XP_006724179.2:n.250-2A>G | |
| XM_011529839.1:c.952-2A>G | XP_011528141.1:n.952-2A>G | |
| XM_011529840.1:c.952-2A>G | XP_011528142.1:n.952-2A>G | |
| XM_011529841.1:c.721-2A>G | XP_011528143.1:n.721-2A>G | |
| XM_011529842.1:c.622-2A>G | XP_011528144.1:n.622-2A>G | |
| XM_011529843.1:c.592-2A>G | XP_011528145.1:n.592-2A>G | |
| XM_011529844.1:c.952-2A>G | XP_011528146.1:n.952-2A>G | |
| XM_011529845.1:c.130-2A>G | XP_011528147.1:n.130-2A>G | |
| XR_937805.1:n.1014-2A>G | ||
| XR_937806.1:n.1009-2A>G | ||
| XR_937807.1:n.1009-2A>G | ||
| NM_001349956.1:c.592-2A>G | NP_001336885.1:n.592-2A>G | |
| NM_007194.4:c.793-2A>G MANE Select | NP_009125.1:n.793-2A>G | |
| XM_006724114.3:c.346-2A>G | XP_006724177.2:n.346-2A>G | |
| XM_011529839.2:c.952-2A>G | XP_011528141.1:n.952-2A>G | |
| XM_011529840.3:c.952-2A>G | XP_011528142.1:n.952-2A>G | |
| XM_011529842.2:c.622-2A>G | XP_011528144.1:n.622-2A>G | |
| XM_011529844.2:c.952-2A>G | XP_011528146.1:n.952-2A>G | |
| XM_011529845.2:c.130-2A>G | XP_011528147.1:n.130-2A>G | |
| XM_017028560.1:c.916-2A>G | XP_016884049.1:n.916-2A>G | |
| XM_017028561.2:c.130-2A>G | XP_016884050.1:n.130-2A>G | |
| XM_024452148.1:c.823-2A>G | XP_024307916.1:n.823-2A>G | |
| XM_024452149.1:c.823-2A>G | XP_024307917.1:n.823-2A>G | |
| XR_937805.2:n.1025-2A>G | ||
| XR_937806.2:n.1025-2A>G | ||
| XR_937807.2:n.1025-2A>G | ||
| NM_001005735.2:c.922-2A>G | NP_001005735.1:n.922-2A>G | |
| NM_001257387.2:c.130-2A>G | NP_001244316.1:n.130-2A>G | |
| NM_001349956.2:c.592-2A>G | NP_001336885.1:n.592-2A>G |