MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118482093G>A , CM000673.2:g.118482093G>A | GRCh38 |
| NC_000011.9:g.118352808G>A , CM000673.1:g.118352808G>A | GRCh37 |
| NC_000011.8:g.117858018G>A | NCBI36 |
| NG_027813.1:g.50604G>A , LRG_613:g.50604G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.4111+1G>A | ENSP00000432391.3:n.4111+1G>A | |
| ENST00000710560.1:c.4111+1G>A | ENSP00000518343.1:n.4111+1G>A | |
| ENST00000533790.3:c.1496G>A | ENSP00000436700.3:p.Gly499Asp | |
| ENST00000685719.1:c.993+1G>A | ||
| ENST00000691053.1:c.4012+1G>A | ENSP00000509168.1:n.4012+1G>A | |
| ENST00000389506.10:c.4012+1G>A | ENSP00000374157.5:n.4012+1G>A | |
| ENST00000392873.4:n.105+1G>A | ||
| ENST00000420751.3:n.105+1G>A | ||
| ENST00000534358.8:c.4012+1G>A MANE Select | ENSP00000436786.2:n.4012+1G>A | |
| ENST00000648261.1:c.2783G>A | ENSP00000498126.1:p.Gly928Asp | |
| ENST00000649699.1:c.4012+1G>A | ENSP00000496927.1:n.4012+1G>A | |
| ENST00000389506.9:c.4012+1G>A | ENSP00000374157.5:n.4012+1G>A | |
| ENST00000392873.3:c.262+1G>A | ENSP00000376612.3:n.262+1G>A | |
| ENST00000420751.2:n.105+1G>A | ||
| ENST00000531904.6:c.4111+1G>A | ENSP00000432391.2:n.4111+1G>A | |
| ENST00000534358.5:c.4012+1G>A | ENSP00000436786.1:n.4012+1G>A | |
| NM_001197104.1:c.4012+1G>A , LRG_613t1:c.4012+1G>A | NP_001184033.1:n.4012+1G>A | |
| NM_005933.3:c.4012+1G>A | NP_005924.2:n.4012+1G>A | |
| XM_006718839.2:c.1495+1G>A | XP_006718902.2:n.1495+1G>A | |
| XM_011542829.1:c.4111+1G>A | XP_011541131.1:n.4111+1G>A | |
| XM_011542830.1:c.4111+1G>A | XP_011541132.1:n.4111+1G>A | |
| XM_011542831.1:c.4111+1G>A | XP_011541133.1:n.4111+1G>A | |
| XM_011542832.1:c.1918+1G>A | XP_011541134.1:n.1918+1G>A | |
| XM_011542833.1:c.1594+1G>A | XP_011541135.1:n.1594+1G>A | |
| XM_006718839.3:c.1495+1G>A | XP_006718902.2:n.1495+1G>A | |
| XM_011542829.2:c.4111+1G>A | XP_011541131.1:n.4111+1G>A | |
| XM_011542830.2:c.4111+1G>A | XP_011541132.1:n.4111+1G>A | |
| XM_011542831.2:c.4111+1G>A | XP_011541133.1:n.4111+1G>A | |
| XM_011542833.2:c.1594+1G>A | XP_011541135.1:n.1594+1G>A | |
| NM_001197104.2:c.4012+1G>A MANE Select | NP_001184033.1:n.4012+1G>A | |
| NM_005933.4:c.4012+1G>A | NP_005924.2:n.4012+1G>A |