MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41740204G>T , CM000677.2:g.41740204G>T | GRCh38 |
| NC_000015.9:g.42032402G>T , CM000677.1:g.42032402G>T | GRCh37 |
| NC_000015.8:g.39819694G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703841.1:c.4732+1G>T MANE Select | ENSP00000515495.1:n.4732+1G>T | |
| ENST00000703843.1:c.738+1G>T | ENSP00000515497.1:n.738+1G>T | |
| ENST00000219905.13:c.4585+1G>T | ENSP00000219905.7:n.4585+1G>T | |
| ENST00000545763.6:c.*393+1G>T | ENSP00000442467.2:n.*393+1G>T | |
| ENST00000566586.6:c.4585+1G>T | ENSP00000456141.1:n.4585+1G>T | |
| ENST00000570161.6:c.4732+1G>T | ENSP00000457035.2:n.4732+1G>T | |
| ENST00000219905.11:c.4585+1G>T | ENSP00000219905.7:n.4585+1G>T | |
| ENST00000545763.5:c.4585+1G>T | ENSP00000442467.1:n.4585+1G>T | |
| ENST00000564190.1:c.527+1G>T | ||
| ENST00000566586.5:c.4585+1G>T | ENSP00000456141.1:n.4585+1G>T | |
| ENST00000570161.5:c.4585+1G>T | ENSP00000457035.1:n.4585+1G>T | |
| NM_001080541.2:c.4585+1G>T | NP_001074010.2:n.4585+1G>T | |
| NM_001164273.1:c.4585+1G>T | NP_001157745.1:n.4585+1G>T | |
| XM_005254243.1:c.4732+1G>T | XP_005254300.1:n.4732+1G>T | |
| XM_005254244.2:c.4732+1G>T | XP_005254301.1:n.4732+1G>T | |
| XM_005254245.3:c.4732+1G>T | XP_005254302.1:n.4732+1G>T | |
| XM_005254246.1:c.4732+1G>T | XP_005254303.1:n.4732+1G>T | |
| XM_005254247.1:c.4732+1G>T | XP_005254304.1:n.4732+1G>T | |
| XM_005254248.1:c.4732+1G>T | XP_005254305.1:n.4732+1G>T | |
| XM_005254249.1:c.4585+1G>T | XP_005254306.1:n.4585+1G>T | |
| XM_005254252.1:c.4255+1G>T | XP_005254309.1:n.4255+1G>T | |
| XM_005254253.1:c.4732+1G>T | XP_005254310.1:n.4732+1G>T | |
| XM_005254254.2:c.268+1G>T | XP_005254311.1:n.268+1G>T | |
| XM_006720443.2:c.4732+1G>T | XP_006720506.1:n.4732+1G>T | |
| XM_006720444.2:c.3676+1G>T | XP_006720507.1:n.3676+1G>T | |
| XM_006720445.2:c.3361+1G>T | XP_006720508.1:n.3361+1G>T | |
| XM_011521397.1:c.4402+1G>T | XP_011519699.1:n.4402+1G>T | |
| XM_011521398.1:c.4402+1G>T | XP_011519700.1:n.4402+1G>T | |
| XM_011521399.1:c.79+1G>T | XP_011519701.1:n.79+1G>T | |
| XM_011521400.1:c.79+1G>T | XP_011519702.1:n.79+1G>T | |
| XM_011521401.1:c.4601+1G>T | XP_011519703.1:n.4601+1G>T | |
| XM_005254243.3:c.4732+1G>T | XP_005254300.1:n.4732+1G>T | |
| XM_005254244.4:c.4732+1G>T | XP_005254301.1:n.4732+1G>T | |
| XM_005254245.5:c.4732+1G>T | XP_005254302.1:n.4732+1G>T | |
| XM_005254246.3:c.4732+1G>T | XP_005254303.1:n.4732+1G>T | |
| XM_005254247.3:c.4732+1G>T | XP_005254304.1:n.4732+1G>T | |
| XM_005254248.3:c.4732+1G>T | XP_005254305.1:n.4732+1G>T | |
| XM_005254249.3:c.4585+1G>T | XP_005254306.1:n.4585+1G>T | |
| XM_005254252.3:c.4255+1G>T | XP_005254309.1:n.4255+1G>T | |
| XM_005254253.3:c.4732+1G>T | XP_005254310.1:n.4732+1G>T | |
| XM_005254254.4:c.268+1G>T | XP_005254311.1:n.268+1G>T | |
| XM_006720443.4:c.4732+1G>T | XP_006720506.1:n.4732+1G>T | |
| XM_006720445.4:c.3361+1G>T | XP_006720508.1:n.3361+1G>T | |
| XM_011521397.3:c.4402+1G>T | XP_011519699.1:n.4402+1G>T | |
| XM_011521398.3:c.4402+1G>T | XP_011519700.1:n.4402+1G>T | |
| XM_011521399.3:c.79+1G>T | XP_011519701.1:n.79+1G>T | |
| XM_011521400.3:c.79+1G>T | XP_011519702.1:n.79+1G>T | |
| XM_017022028.2:c.3361+1G>T | XP_016877517.1:n.3361+1G>T | |
| XM_017022029.2:c.3361+1G>T | XP_016877518.1:n.3361+1G>T | |
| XM_017022030.2:c.4434+3506G>T | XP_016877519.1:n.4434+3506G>T | |
| XM_017022031.2:c.79+1G>T | XP_016877520.1:n.79+1G>T | |
| XM_017022032.2:c.79+1G>T | XP_016877521.1:n.79+1G>T | |
| XR_001751172.2:n.4778+1G>T | ||
| XR_002957629.1:n.4778+1G>T | ||
| XR_002957630.1:n.4448+1G>T | ||
| NM_001080541.3:c.4585+1G>T | NP_001074010.2:n.4585+1G>T | |
| NM_001164273.2:c.4585+1G>T | NP_001157745.1:n.4585+1G>T | |
| NM_001400225.1:c.4732+1G>T MANE Select | NP_001387154.1:n.4732+1G>T | |
| NM_001400242.1:c.4104+3836G>T | NP_001387171.1:n.4104+3836G>T |