MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75949215A>C , CM000679.2:g.75949215A>C | GRCh38 |
| NC_000017.10:g.73945296A>C , CM000679.1:g.73945296A>C | GRCh37 |
| NC_000017.9:g.71456891A>C | NCBI36 |
| NG_008190.1:g.35149T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.1728+2T>G | ENSP00000301608.4:n.1728+2T>G | |
| ENST00000293217.10:c.1728+2T>G MANE Select | ENSP00000293217.4:n.1728+2T>G | |
| ENST00000293217.9:c.1728+2T>G | ENSP00000293217.4:n.1728+2T>G | |
| ENST00000301608.8:c.1728+2T>G | ENSP00000301608.4:n.1728+2T>G | |
| ENST00000572047.5:c.1902+2T>G | ENSP00000459936.1:n.1902+2T>G | |
| ENST00000573078.5:c.*1217+2T>G | ENSP00000458325.1:n.*1217+2T>G | |
| ENST00000587927.5:c.143+2T>G | ||
| ENST00000588968.5:c.182+2T>G | ||
| NM_001185039.1:c.1614+2T>G | NP_001171968.1:n.1614+2T>G | |
| NM_004035.6:c.1728+2T>G | NP_004026.2:n.1728+2T>G | |
| NM_007292.5:c.1728+2T>G | NP_009223.2:n.1728+2T>G | |
| XM_011524868.1:c.1524+2T>G | XP_011523170.1:n.1524+2T>G | |
| XM_011524869.1:c.1320+2T>G | XP_011523171.1:n.1320+2T>G | |
| XM_011524868.3:c.1524+2T>G | XP_011523170.1:n.1524+2T>G | |
| XM_011524869.3:c.1320+2T>G | XP_011523171.1:n.1320+2T>G | |
| NM_004035.7:c.1728+2T>G MANE Select | NP_004026.2:n.1728+2T>G | |
| NM_001185039.2:c.1614+2T>G | NP_001171968.1:n.1614+2T>G | |
| NM_007292.6:c.1728+2T>G | NP_009223.2:n.1728+2T>G |