gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50515686 (EAS)
Genomes Max Group AF
0.50515686 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69392716C>T , CM000672.2:g.69392716C>T | GRCh38 |
| NC_000010.10:g.71152472C>T , CM000672.1:g.71152472C>T | GRCh37 |
| NC_000010.9:g.70822478C>T | NCBI36 |
| NG_012077.1:g.127717C>T , LRG_365:g.127717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.2219+408C>T | ENSP00000515580.1:n.2219+408C>T | |
| ENST00000703945.1:c.2135+408C>T | ENSP00000515578.1:n.2135+408C>T | |
| ENST00000703946.1:c.1266-2234C>T | ENSP00000515579.1:n.1266-2234C>T | |
| ENST00000703947.1:c.1829+408C>T | ENSP00000515581.1:n.1829+408C>T | |
| ENST00000703948.1:c.*1836+408C>T | ENSP00000515582.1:n.*1836+408C>T | |
| ENST00000703949.1:c.2219+408C>T | ENSP00000515583.1:n.2219+408C>T | |
| ENST00000703950.1:c.1935+6298C>T | ENSP00000515584.1:n.1935+6298C>T | |
| ENST00000703951.1:c.1266-8275C>T | ENSP00000515585.1:n.1266-8275C>T | |
| ENST00000703952.1:c.1266-5879C>T | ENSP00000515586.1:n.1266-5879C>T | |
| ENST00000703953.1:c.*1298+3420C>T | ENSP00000515587.1:n.*1298+3420C>T | |
| ENST00000703954.1:c.2099+408C>T | ENSP00000515588.1:n.2099+408C>T | |
| ENST00000703955.1:n.2769+408C>T | ||
| ENST00000298649.8:c.2216+408C>T | ENSP00000298649.3:n.2216+408C>T | |
| ENST00000359426.7:c.2219+408C>T MANE Select | ENSP00000352398.6:n.2219+408C>T | |
| ENST00000436817.6:c.2231+408C>T | ENSP00000415949.2:n.2231+408C>T | |
| ENST00000493591.6:c.*2107+408C>T | ENSP00000494917.1:n.*2107+408C>T | |
| ENST00000643399.2:c.2231+408C>T MANE Plus Clinical | ENSP00000494664.1:n.2231+408C>T | |
| ENST00000298649.7:c.2216+408C>T | ENSP00000298649.3:n.2216+408C>T | |
| ENST00000359426.6:c.2219+408C>T | ENSP00000352398.6:n.2219+408C>T | |
| ENST00000360289.6:c.2183+408C>T | ENSP00000353433.2:n.2183+408C>T | |
| ENST00000448642.6:c.2231+408C>T | ENSP00000402103.3:n.2231+408C>T | |
| ENST00000470050.1:n.30+408C>T | ||
| NM_000188.2:c.2219+408C>T | NP_000179.2:n.2219+408C>T | |
| NM_033496.2:c.2216+408C>T | NP_277031.1:n.2216+408C>T | |
| NM_033497.2:c.2231+408C>T | NP_277032.1:n.2231+408C>T | |
| NM_033498.2:c.2231+408C>T | NP_277033.1:n.2231+408C>T | |
| NM_033500.2:c.2183+408C>T , LRG_365t1:c.2183+408C>T | NP_277035.2:n.2183+408C>T | |
| XM_005269735.2:c.2348+408C>T | XP_005269792.1:n.2348+408C>T | |
| XM_005269736.1:c.2231+408C>T | XP_005269793.1:n.2231+408C>T | |
| XM_005269737.1:c.2135+408C>T | XP_005269794.1:n.2135+408C>T | |
| XM_011539732.1:c.2183+408C>T | XP_011538034.1:n.2183+408C>T | |
| XM_011539733.1:c.2177+408C>T | XP_011538035.1:n.2177+408C>T | |
| XM_011539734.1:c.2174+408C>T | XP_011538036.1:n.2174+408C>T | |
| NM_001322364.1:c.2231+408C>T | NP_001309293.1:n.2231+408C>T | |
| NM_001322365.1:c.2324+408C>T | NP_001309294.1:n.2324+408C>T | |
| NM_001322366.1:c.2135+408C>T | NP_001309295.1:n.2135+408C>T | |
| NM_001322367.1:c.2123+408C>T | NP_001309296.1:n.2123+408C>T | |
| NM_001358263.1:c.2231+408C>T MANE Plus Clinical | NP_001345192.1:n.2231+408C>T | |
| XM_024447969.1:c.2231+408C>T | XP_024303737.1:n.2231+408C>T | |
| NM_000188.3:c.2219+408C>T MANE Select | NP_000179.2:n.2219+408C>T | |
| NM_001322364.2:c.2231+408C>T | NP_001309293.1:n.2231+408C>T | |
| NM_001322365.2:c.2324+408C>T | NP_001309294.1:n.2324+408C>T | |
| NM_033496.3:c.2216+408C>T | NP_277031.1:n.2216+408C>T | |
| NM_033497.3:c.2231+408C>T | NP_277032.1:n.2231+408C>T | |
| NM_033498.3:c.2231+408C>T | NP_277033.1:n.2231+408C>T |