gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27337536 (AFR)
Genomes Max Group AF
0.27337536 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128933710C>T , CM000665.2:g.128933710C>T | GRCh38 |
| NC_000003.11:g.128652553C>T , CM000665.1:g.128652553C>T | GRCh37 |
| NC_000003.10:g.130135243C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645291.3:c.2454-713G>A MANE Select | ENSP00000496592.2:n.2454-713G>A | |
| ENST00000637488.2:c.34-713G>A | ||
| ENST00000645291.2:c.2454-713G>A | ENSP00000496592.2:n.2454-713G>A | |
| ENST00000669741.1:c.264-713G>A | ENSP00000499631.1:n.264-713G>A | |
| ENST00000508239.1:c.1092-713G>A | ENSP00000424951.1:n.1092-713G>A | |
| ENST00000511438.5:c.1169-23377G>A | ENSP00000426217.1:n.1169-23377G>A | |
| XM_011513046.1:c.2571-713G>A | XP_011511348.1:n.2571-713G>A | |
| XM_011513047.1:c.2571-713G>A | XP_011511349.1:n.2571-713G>A | |
| XM_011513048.1:c.2571-713G>A | XP_011511350.1:n.2571-713G>A | |
| XM_011513049.1:c.2571-713G>A | XP_011511351.1:n.2571-713G>A | |
| XM_011513050.1:c.2496-713G>A | XP_011511352.1:n.2496-713G>A | |
| NM_001348520.1:c.1581-713G>A | NP_001335449.1:n.1581-713G>A | |
| NM_001348521.1:c.1485-713G>A | NP_001335450.1:n.1485-713G>A | |
| XM_011513050.2:c.2550-713G>A | XP_011511352.2:n.2550-713G>A | |
| XM_017006939.2:c.2550-713G>A | XP_016862428.1:n.2550-713G>A | |
| XM_017006940.2:c.2550-713G>A | XP_016862429.1:n.2550-713G>A | |
| XM_017006941.2:c.2550-713G>A | XP_016862430.1:n.2550-713G>A | |
| XM_017006942.2:c.2550-713G>A | XP_016862431.1:n.2550-713G>A | |
| XM_017006944.2:c.2454-713G>A | XP_016862433.1:n.2454-713G>A | |
| XM_017006945.1:c.2454-713G>A | XP_016862434.1:n.2454-713G>A | |
| XM_017006946.2:c.2256-713G>A | XP_016862435.1:n.2256-713G>A | |
| XM_017006947.2:c.2145-713G>A | XP_016862436.1:n.2145-713G>A | |
| XM_017006948.2:c.2118-713G>A | XP_016862437.1:n.2118-713G>A | |
| XM_017006950.2:c.2118-713G>A | XP_016862439.1:n.2118-713G>A | |
| XM_017006951.2:c.1863-713G>A | XP_016862440.1:n.1863-713G>A | |
| XM_017006952.2:c.1863-713G>A | XP_016862441.1:n.1863-713G>A | |
| XM_017006953.2:c.1863-713G>A | XP_016862442.1:n.1863-713G>A | |
| XM_017006954.1:c.1092-713G>A | XP_016862443.1:n.1092-713G>A | |
| XM_024453688.1:c.2118-713G>A | XP_024309456.1:n.2118-713G>A | |
| XM_024453689.1:c.1581-713G>A | XP_024309457.1:n.1581-713G>A | |
| NM_001348520.2:c.1581-713G>A | NP_001335449.1:n.1581-713G>A | |
| NM_001348521.2:c.1485-713G>A | NP_001335450.1:n.1485-713G>A | |
| NM_001394090.1:c.2454-713G>A MANE Select | NP_001381019.1:n.2454-713G>A |