gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7320869 (AMR)
Genomes Max Group AF
0.6815268 (AMR)
Exomes Max Group AF
0.75557453 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96766240A>G , CM000667.2:g.96766240A>G | GRCh38 |
| NC_000005.9:g.96101944A>G , CM000667.1:g.96101944A>G | GRCh37 |
| NC_000005.8:g.96127700A>G | NCBI36 |
| NG_027839.1:g.52905T>C | |
| NG_029490.1:g.109204A>G | |
| NG_027839.2:g.174744T>C | |
| NG_029490.2:g.109204A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484552.6:c.1047+95A>G (CAST) | ENSP00000432878.2:n.1047+95A>G | |
| ENST00000508608.6:c.1980+95A>G (CAST) | ENSP00000422677.2:n.1980+95A>G | |
| ENST00000510756.6:c.1758+95A>G (CAST) | ENSP00000422176.2:n.1758+95A>G | |
| ENST00000674587.1:c.1584+95A>G (CAST) | ENSP00000501797.1:n.1584+95A>G | |
| ENST00000674702.1:c.1869+95A>G (CAST) | ENSP00000502345.1:n.1869+95A>G | |
| ENST00000674984.1:c.2064+95A>G (CAST) | ENSP00000501713.1:n.2064+95A>G | |
| ENST00000675033.1:c.1758+95A>G (CAST) | ENSP00000501659.1:n.1758+95A>G | |
| ENST00000675179.1:c.2130+95A>G (CAST) MANE Select | ENSP00000501872.1:n.2130+95A>G | |
| ENST00000675185.1:c.511+95A>G (CAST) | ||
| ENST00000675266.1:c.2032+95A>G (CAST) | ||
| ENST00000675267.1:c.*1754+95A>G (CAST) | ENSP00000502095.1:n.*1754+95A>G | |
| ENST00000675275.1:c.847+95A>G (CAST) | ||
| ENST00000675479.1:c.1743+95A>G (CAST) | ENSP00000502244.1:n.1743+95A>G | |
| ENST00000675614.1:c.1800+95A>G (CAST) | ENSP00000502136.1:n.1800+95A>G | |
| ENST00000675663.1:c.2019+95A>G (CAST) | ENSP00000502449.1:n.2019+95A>G | |
| ENST00000675734.1:n.671+95A>G (CAST) | ||
| ENST00000675858.1:c.1674+95A>G (CAST) | ENSP00000501780.1:n.1674+95A>G | |
| ENST00000296754.7:c.2819-3012T>C (ERAP1) | ENSP00000296754.3:n.2819-3012T>C | |
| ENST00000309190.9:c.1815+95A>G (CAST) | ENSP00000312523.5:n.1815+95A>G | |
| ENST00000325674.11:c.1047+95A>G (CAST) | ENSP00000320319.8:n.1047+95A>G | |
| ENST00000338252.7:c.1842+95A>G (CAST) | ENSP00000343421.3:n.1842+95A>G | |
| ENST00000341926.7:c.1881+95A>G (CAST) | ENSP00000339914.3:n.1881+95A>G | |
| ENST00000348386.7:n.1823+95A>G (CAST) | ||
| ENST00000395812.6:c.2007+95A>G (CAST) | ENSP00000379157.2:n.2007+95A>G | |
| ENST00000395813.5:c.1881+95A>G (CAST) | ENSP00000379158.2:n.1881+95A>G | |
| ENST00000437034.6:c.1136+95A>G (CAST) | ||
| ENST00000484552.5:c.1105+95A>G (CAST) | ||
| ENST00000504465.5:c.1665+95A>G (CAST) | ENSP00000425670.1:n.1665+95A>G | |
| ENST00000508579.5:c.1026+95A>G (CAST) | ENSP00000425787.1:n.1026+95A>G | |
| ENST00000508608.5:c.2019+95A>G (CAST) | ENSP00000422677.1:n.2019+95A>G | |
| ENST00000508830.5:c.2130+95A>G (CAST) | ENSP00000425721.1:n.2130+95A>G | |
| ENST00000509903.5:c.1776+95A>G (CAST) | ENSP00000426946.1:n.1776+95A>G | |
| ENST00000510098.1:c.366+95A>G (CAST) | ENSP00000427195.1:n.366+95A>G | |
| ENST00000510156.5:c.1881+95A>G (CAST) | ENSP00000422325.1:n.1881+95A>G | |
| ENST00000510500.5:c.1150+95A>G (CAST) | ||
| ENST00000510756.5:c.2064+95A>G (CAST) | ENSP00000422176.1:n.2064+95A>G | |
| ENST00000511049.5:c.1836+95A>G (CAST) | ENSP00000421130.1:n.1836+95A>G | |
| ENST00000511782.5:c.1839+95A>G (CAST) | ENSP00000423638.1:n.1839+95A>G | |
| ENST00000515663.5:c.1050+95A>G (CAST) | ENSP00000422929.1:n.1050+95A>G | |
| NM_001042440.3:c.2007+95A>G (CAST) | NP_001035905.1:n.2007+95A>G | |
| NM_001190442.1:c.1842+95A>G (CAST) | NP_001177371.1:n.1842+95A>G | |
| NM_001284212.1:c.1755+95A>G (CAST) | NP_001271141.1:n.1755+95A>G | |
| NM_001284213.1:c.1665+95A>G (CAST) | NP_001271142.1:n.1665+95A>G | |
| NM_016442.3:c.2819-3012T>C (ERAP1) | NP_057526.3:n.2819-3012T>C | |
| NM_173060.3:c.1815+95A>G (CAST) | NP_775083.1:n.1815+95A>G | |
| NR_104285.1:n.1134+95A>G (CAST) | ||
| XM_006714696.2:c.2130+95A>G (CAST) | XP_006714759.1:n.2130+95A>G | |
| XM_006714697.2:c.2127+95A>G (CAST) | XP_006714760.1:n.2127+95A>G | |
| XM_006714698.2:c.2091+95A>G (CAST) | XP_006714761.1:n.2091+95A>G | |
| XM_006714699.2:c.2085+95A>G (CAST) | XP_006714762.1:n.2085+95A>G | |
| XM_006714700.2:c.2073+95A>G (CAST) | XP_006714763.1:n.2073+95A>G | |
| XM_006714701.2:c.2064+95A>G (CAST) | XP_006714764.1:n.2064+95A>G | |
| XM_006714702.2:c.2028+95A>G (CAST) | XP_006714765.1:n.2028+95A>G | |
| XM_006714703.2:c.2025+95A>G (CAST) | XP_006714766.1:n.2025+95A>G | |
| XM_006714704.2:c.2019+95A>G (CAST) | XP_006714767.1:n.2019+95A>G | |
| XM_006714705.2:c.2004+95A>G (CAST) | XP_006714768.1:n.2004+95A>G | |
| XM_006714706.2:c.1962+95A>G (CAST) | XP_006714769.1:n.1962+95A>G | |
| XM_006714707.2:c.1881+95A>G (CAST) | XP_006714770.1:n.1881+95A>G | |
| XM_006714708.2:c.1842+95A>G (CAST) | XP_006714771.1:n.1842+95A>G | |
| XM_006714709.2:c.1824+95A>G (CAST) | XP_006714772.1:n.1824+95A>G | |
| XM_006714710.2:c.1776+95A>G (CAST) | XP_006714773.1:n.1776+95A>G | |
| XM_006714711.2:c.1758+95A>G (CAST) | XP_006714774.1:n.1758+95A>G | |
| XM_006714712.2:c.1719+95A>G (CAST) | XP_006714775.1:n.1719+95A>G | |
| XM_006714713.2:c.1050+95A>G (CAST) | XP_006714776.1:n.1050+95A>G | |
| XM_006714714.2:c.1047+95A>G (CAST) | XP_006714777.1:n.1047+95A>G | |
| XM_006714715.2:c.1026+95A>G (CAST) | XP_006714778.1:n.1026+95A>G | |
| XM_011543487.1:c.2819-3012T>C (ERAP1) | XP_011541789.1:n.2819-3012T>C | |
| XM_011543654.1:c.2049+95A>G (CAST) | XP_011541956.1:n.2049+95A>G | |
| XM_011543655.1:c.2046+95A>G (CAST) | XP_011541957.1:n.2046+95A>G | |
| XM_011543656.1:c.1983+95A>G (CAST) | XP_011541958.1:n.1983+95A>G | |
| XM_011543657.1:c.1938+95A>G (CAST) | XP_011541959.1:n.1938+95A>G | |
| XM_011543658.1:c.1734+95A>G (CAST) | XP_011541960.1:n.1734+95A>G | |
| NM_001042440.4:c.2007+95A>G (CAST) | NP_001035905.1:n.2007+95A>G | |
| NM_001042441.2:c.2073+95A>G (CAST) | NP_001035906.1:n.2073+95A>G | |
| NM_001042442.2:c.2064+95A>G (CAST) | NP_001035907.1:n.2064+95A>G | |
| NM_001042443.2:c.1881+95A>G (CAST) | NP_001035908.1:n.1881+95A>G | |
| NM_001042444.2:c.1758+95A>G (CAST) | NP_001035909.1:n.1758+95A>G | |
| NM_001042445.2:c.1776+95A>G (CAST) | NP_001035910.1:n.1776+95A>G | |
| NM_001042446.2:c.1719+95A>G (CAST) | NP_001035911.1:n.1719+95A>G | |
| NM_001284212.3:c.1755+95A>G (CAST) | NP_001271141.1:n.1755+95A>G | |
| NM_001284213.3:c.1665+95A>G (CAST) | NP_001271142.1:n.1665+95A>G | |
| NM_001330626.1:c.2034+95A>G (CAST) | NP_001317555.1:n.2034+95A>G | |
| NM_001330627.1:c.2004+95A>G (CAST) | NP_001317556.1:n.2004+95A>G | |
| NM_001330628.1:c.1962+95A>G (CAST) | NP_001317557.1:n.1962+95A>G | |
| NM_001330629.1:c.2046+95A>G (CAST) | NP_001317558.1:n.2046+95A>G | |
| NM_001330630.1:c.1716+95A>G (CAST) | NP_001317559.1:n.1716+95A>G | |
| NM_001330631.1:c.1842+95A>G (CAST) | NP_001317560.1:n.1842+95A>G | |
| NM_001330632.1:c.1812+95A>G (CAST) | NP_001317561.1:n.1812+95A>G | |
| NM_001330633.1:c.1824+95A>G (CAST) | NP_001317562.1:n.1824+95A>G | |
| NM_001330634.1:c.1785+95A>G (CAST) | NP_001317563.1:n.1785+95A>G | |
| NM_001349244.1:c.2819-3012T>C (ERAP1) | NP_001336173.1:n.2819-3012T>C | |
| NM_001750.6:c.2130+95A>G (CAST) | NP_001741.4:n.2130+95A>G | |
| NM_016442.4:c.2819-3012T>C (ERAP1) | NP_057526.3:n.2819-3012T>C | |
| NM_173060.4:c.1815+95A>G (CAST) | NP_775083.1:n.1815+95A>G | |
| XR_001742119.2:n.2957-3012T>C (ERAP1) | ||
| NM_001042440.5:c.2007+95A>G (CAST) | NP_001035905.1:n.2007+95A>G | |
| NM_001042441.3:c.2073+95A>G (CAST) | NP_001035906.1:n.2073+95A>G | |
| NM_001042442.3:c.2064+95A>G (CAST) | NP_001035907.1:n.2064+95A>G | |
| NM_001330626.2:c.2034+95A>G (CAST) | NP_001317555.1:n.2034+95A>G | |
| NM_001330627.2:c.2004+95A>G (CAST) | NP_001317556.1:n.2004+95A>G | |
| NM_001330628.2:c.1962+95A>G (CAST) | NP_001317557.1:n.1962+95A>G | |
| NM_001330629.2:c.2046+95A>G (CAST) | NP_001317558.1:n.2046+95A>G | |
| NM_001375317.1:c.2019+95A>G (CAST) | NP_001362246.1:n.2019+95A>G | |
| NM_001750.7:c.2130+95A>G (CAST) MANE Select | NP_001741.4:n.2130+95A>G | |
| NR_104285.2:n.1072+95A>G (CAST) | ||
| NM_001042443.3:c.1881+95A>G (CAST) | NP_001035908.1:n.1881+95A>G | |
| NM_001042444.3:c.1758+95A>G (CAST) | NP_001035909.1:n.1758+95A>G | |
| NM_001042445.3:c.1776+95A>G (CAST) | NP_001035910.1:n.1776+95A>G | |
| NM_001042446.3:c.1719+95A>G (CAST) | NP_001035911.1:n.1719+95A>G | |
| NM_001190442.2:c.1842+95A>G (CAST) | NP_001177371.1:n.1842+95A>G | |
| NM_001284212.4:c.1755+95A>G (CAST) | NP_001271141.1:n.1755+95A>G | |
| NM_001284213.4:c.1665+95A>G (CAST) | NP_001271142.1:n.1665+95A>G | |
| NM_001330630.2:c.1716+95A>G (CAST) | NP_001317559.1:n.1716+95A>G | |
| NM_001330631.2:c.1842+95A>G (CAST) | NP_001317560.1:n.1842+95A>G | |
| NM_001330632.2:c.1812+95A>G (CAST) | NP_001317561.1:n.1812+95A>G | |
| NM_001330633.2:c.1824+95A>G (CAST) | NP_001317562.1:n.1824+95A>G | |
| NM_001330634.2:c.1785+95A>G (CAST) | NP_001317563.1:n.1785+95A>G | |
| NM_001349244.2:c.2819-3012T>C (ERAP1) | NP_001336173.1:n.2819-3012T>C | |
| NM_016442.5:c.2819-3012T>C (ERAP1) | NP_057526.3:n.2819-3012T>C | |
| NM_173060.5:c.1815+95A>G (CAST) | NP_775083.1:n.1815+95A>G |