gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.681724C>A , CM000680.2:g.681724C>A | GRCh38 |
| NC_000018.9:g.681724C>A , CM000680.1:g.681724C>A | GRCh37 |
| NC_000018.8:g.671724C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340116.12:c.1020+1522G>T | ENSP00000345974.8:n.1020+1522G>T | |
| ENST00000647584.2:c.876+1522G>T MANE Select | ENSP00000497230.2:n.876+1522G>T | |
| ENST00000251101.11:c.876+1522G>T | ENSP00000251101.7:n.876+1522G>T | |
| ENST00000340116.11:c.939+1522G>T | ENSP00000345974.7:n.939+1522G>T | |
| ENST00000383578.7:c.630+1522G>T | ENSP00000373072.3:n.630+1522G>T | |
| ENST00000580982.5:c.648+1522G>T | ENSP00000463425.1:n.648+1522G>T | |
| ENST00000581475.5:c.*263+1522G>T | ENSP00000464614.1:n.*263+1522G>T | |
| ENST00000581928.5:n.135+1522G>T | ||
| ENST00000582745.5:n.374+1522G>T | ||
| ENST00000583973.5:n.1457+1522G>T | ||
| ENST00000584259.6:n.2987+1522G>T | ||
| ENST00000584453.5:c.*263+1522G>T | ENSP00000463448.1:n.*263+1522G>T | |
| ENST00000584706.1:n.187+1522G>T | ||
| ENST00000585128.6:c.696+1522G>T | ||
| NM_001126123.3:c.630+1522G>T | NP_001119595.1:n.630+1522G>T | |
| NM_017512.5:c.876+1522G>T | NP_059982.2:n.876+1522G>T | |
| NM_202758.3:c.939+1522G>T | NP_974487.1:n.939+1522G>T | |
| XM_005258118.2:c.333+1522G>T | XP_005258175.1:n.333+1522G>T | |
| XM_011525677.1:c.918+1522G>T | XP_011523979.1:n.918+1522G>T | |
| XM_011525678.1:c.909+1522G>T | XP_011523980.1:n.909+1522G>T | |
| XM_011525679.1:c.903+1522G>T | XP_011523981.1:n.903+1522G>T | |
| XM_011525680.1:c.891+1522G>T | XP_011523982.1:n.891+1522G>T | |
| XM_011525681.1:c.879+1522G>T | XP_011523983.1:n.879+1522G>T | |
| XM_011525682.1:c.852+1522G>T | XP_011523984.1:n.852+1522G>T | |
| XM_011525683.1:c.729+1522G>T | XP_011523985.1:n.729+1522G>T | |
| XM_011525684.1:c.702+1522G>T | XP_011523986.1:n.702+1522G>T | |
| XM_011525685.1:c.690+1522G>T | XP_011523987.1:n.690+1522G>T | |
| XM_011525686.1:c.666+1522G>T | XP_011523988.1:n.666+1522G>T | |
| XM_011525687.1:c.648+1522G>T | XP_011523989.1:n.648+1522G>T | |
| XM_011525688.1:c.645+1522G>T | XP_011523990.1:n.645+1522G>T | |
| XM_011525689.1:c.513+1522G>T | XP_011523991.1:n.513+1522G>T | |
| XM_011525690.1:c.513+1522G>T | XP_011523992.1:n.513+1522G>T | |
| XM_011525691.1:c.459+1522G>T | XP_011523993.1:n.459+1522G>T | |
| XM_011525692.1:c.459+1522G>T | XP_011523994.1:n.459+1522G>T | |
| XM_011525693.1:c.459+1522G>T | XP_011523995.1:n.459+1522G>T | |
| XM_011525694.1:c.444+1522G>T | XP_011523996.1:n.444+1522G>T | |
| XM_011525695.1:c.420+1522G>T | XP_011523997.1:n.420+1522G>T | |
| XM_011525696.1:c.348+1522G>T | XP_011523998.1:n.348+1522G>T | |
| XM_011525697.1:c.306+1522G>T | XP_011523999.1:n.306+1522G>T | |
| XM_011525698.1:c.306+1522G>T | XP_011524000.1:n.306+1522G>T | |
| XM_011525699.1:c.306+1522G>T | XP_011524001.1:n.306+1522G>T | |
| XR_243810.3:n.912+1522G>T | ||
| XR_243811.2:n.937+1522G>T | ||
| XR_430041.2:n.1074+1522G>T | ||
| XR_935066.1:n.927+1522G>T | ||
| XR_935067.1:n.927+1522G>T | ||
| NM_001318760.1:c.333+1522G>T | NP_001305689.1:n.333+1522G>T | |
| NM_001354065.1:c.630+1522G>T | NP_001340994.1:n.630+1522G>T | |
| NM_001354066.1:c.876+1522G>T | NP_001340995.1:n.876+1522G>T | |
| NM_001354067.1:c.1020+1522G>T | NP_001340996.1:n.1020+1522G>T | |
| NM_001354068.1:c.831+1522G>T | NP_001340997.1:n.831+1522G>T | |
| NM_017512.6:c.876+1522G>T | NP_059982.2:n.876+1522G>T | |
| NM_202758.4:c.1020+1522G>T | NP_974487.2:n.1020+1522G>T | |
| NR_148706.1:n.837+1522G>T | ||
| NR_148707.1:n.953+1522G>T | ||
| NR_148708.1:n.1243+1522G>T | ||
| NR_148709.1:n.929+1522G>T | ||
| NR_148710.1:n.955+1522G>T | ||
| NR_148711.1:n.764+1522G>T | ||
| NR_148712.1:n.1097+1522G>T | ||
| XM_017025837.1:c.291+1522G>T | XP_016881326.1:n.291+1522G>T | |
| XM_024451200.1:c.897+1522G>T | XP_024306968.1:n.897+1522G>T | |
| XM_024451201.1:c.891+1522G>T | XP_024306969.1:n.891+1522G>T | |
| XM_024451202.1:c.882+1522G>T | XP_024306970.1:n.882+1522G>T | |
| XM_024451203.1:c.852+1522G>T | XP_024306971.1:n.852+1522G>T | |
| XM_024451204.1:c.732+1522G>T | XP_024306972.1:n.732+1522G>T | |
| XM_024451205.1:c.708+1522G>T | XP_024306973.1:n.708+1522G>T | |
| XM_024451206.1:c.702+1522G>T | XP_024306974.1:n.702+1522G>T | |
| XM_024451207.1:c.666+1522G>T | XP_024306975.1:n.666+1522G>T | |
| XM_024451208.1:c.651+1522G>T | XP_024306976.1:n.651+1522G>T | |
| XM_024451209.1:c.648+1522G>T | XP_024306977.1:n.648+1522G>T | |
| XM_024451210.1:c.645+1522G>T | XP_024306978.1:n.645+1522G>T | |
| XM_024451211.1:c.648+1522G>T | XP_024306979.1:n.648+1522G>T | |
| XM_024451212.1:c.513+1522G>T | XP_024306980.1:n.513+1522G>T | |
| XM_024451213.1:c.513+1522G>T | XP_024306981.1:n.513+1522G>T | |
| XM_024451214.1:c.474+1522G>T | XP_024306982.1:n.474+1522G>T | |
| XM_024451215.1:c.459+1522G>T | XP_024306983.1:n.459+1522G>T | |
| XM_024451216.1:c.459+1522G>T | XP_024306984.1:n.459+1522G>T | |
| XM_024451217.1:c.348+1522G>T | XP_024306985.1:n.348+1522G>T | |
| XM_024451218.1:c.306+1522G>T | XP_024306986.1:n.306+1522G>T | |
| XM_024451219.1:c.306+1522G>T | XP_024306987.1:n.306+1522G>T | |
| XM_024451220.1:c.306+1522G>T | XP_024306988.1:n.306+1522G>T | |
| XR_002958180.1:n.937+1522G>T | ||
| XR_430041.4:n.1093+1522G>T | ||
| NM_017512.7:c.876+1522G>T MANE Select | NP_059982.2:n.876+1522G>T | |
| NM_001318760.2:c.333+1522G>T | NP_001305689.1:n.333+1522G>T | |
| NM_001354065.2:c.630+1522G>T | NP_001340994.1:n.630+1522G>T | |
| NM_001354066.2:c.876+1522G>T | NP_001340995.1:n.876+1522G>T | |
| NM_001354067.2:c.1020+1522G>T | NP_001340996.1:n.1020+1522G>T | |
| NM_001354068.2:c.831+1522G>T | NP_001340997.1:n.831+1522G>T | |
| NM_202758.5:c.1020+1522G>T | NP_974487.2:n.1020+1522G>T | |
| NR_148706.2:n.803+1522G>T | ||
| NR_148707.2:n.919+1522G>T | ||
| NR_148708.2:n.1209+1522G>T | ||
| NR_148709.2:n.895+1522G>T | ||
| NR_148710.2:n.921+1522G>T | ||
| NR_148711.2:n.730+1522G>T | ||
| NR_148712.2:n.1063+1522G>T |