gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38206419 (EAS)
Genomes Max Group AF
0.35502294 (EAS)
Exomes Max Group AF
0.38415009 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.677931C>G , CM000680.2:g.677931C>G | GRCh38 |
| NC_000018.9:g.677931C>G , CM000680.1:g.677931C>G | GRCh37 |
| NC_000018.8:g.667931C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340116.12:c.1021-59G>C | ENSP00000345974.8:n.1021-59G>C | |
| ENST00000647584.2:c.919-59G>C MANE Select | ENSP00000497230.2:n.919-59G>C | |
| ENST00000251101.11:c.919-59G>C | ENSP00000251101.7:n.919-59G>C | |
| ENST00000340116.11:c.940-59G>C | ENSP00000345974.7:n.940-59G>C | |
| ENST00000383578.7:c.673-59G>C | ENSP00000373072.3:n.673-59G>C | |
| ENST00000580982.5:c.691-59G>C | ENSP00000463425.1:n.691-59G>C | |
| ENST00000581475.5:c.*306-59G>C | ENSP00000464614.1:n.*306-59G>C | |
| ENST00000581928.5:n.136-2529G>C | ||
| ENST00000582745.5:n.417-59G>C | ||
| ENST00000583973.5:n.1500-59G>C | ||
| ENST00000584259.6:n.3030-59G>C | ||
| ENST00000584453.5:c.*306-59G>C | ENSP00000463448.1:n.*306-59G>C | |
| ENST00000585128.6:c.739-59G>C | ||
| NM_001126123.3:c.673-59G>C | NP_001119595.1:n.673-59G>C | |
| NM_017512.5:c.919-59G>C | NP_059982.2:n.919-59G>C | |
| NM_202758.3:c.940-59G>C | NP_974487.1:n.940-59G>C | |
| XM_005258118.2:c.376-59G>C | XP_005258175.1:n.376-59G>C | |
| XM_011525677.1:c.961-59G>C | XP_011523979.1:n.961-59G>C | |
| XM_011525678.1:c.952-59G>C | XP_011523980.1:n.952-59G>C | |
| XM_011525679.1:c.946-59G>C | XP_011523981.1:n.946-59G>C | |
| XM_011525680.1:c.934-59G>C | XP_011523982.1:n.934-59G>C | |
| XM_011525681.1:c.922-59G>C | XP_011523983.1:n.922-59G>C | |
| XM_011525682.1:c.895-59G>C | XP_011523984.1:n.895-59G>C | |
| XM_011525683.1:c.772-59G>C | XP_011523985.1:n.772-59G>C | |
| XM_011525684.1:c.745-59G>C | XP_011523986.1:n.745-59G>C | |
| XM_011525685.1:c.733-59G>C | XP_011523987.1:n.733-59G>C | |
| XM_011525686.1:c.709-59G>C | XP_011523988.1:n.709-59G>C | |
| XM_011525687.1:c.691-59G>C | XP_011523989.1:n.691-59G>C | |
| XM_011525688.1:c.688-59G>C | XP_011523990.1:n.688-59G>C | |
| XM_011525689.1:c.556-59G>C | XP_011523991.1:n.556-59G>C | |
| XM_011525690.1:c.556-59G>C | XP_011523992.1:n.556-59G>C | |
| XM_011525691.1:c.502-59G>C | XP_011523993.1:n.502-59G>C | |
| XM_011525692.1:c.502-59G>C | XP_011523994.1:n.502-59G>C | |
| XM_011525693.1:c.502-59G>C | XP_011523995.1:n.502-59G>C | |
| XM_011525694.1:c.487-59G>C | XP_011523996.1:n.487-59G>C | |
| XM_011525695.1:c.463-59G>C | XP_011523997.1:n.463-59G>C | |
| XM_011525696.1:c.391-59G>C | XP_011523998.1:n.391-59G>C | |
| XM_011525697.1:c.349-59G>C | XP_011523999.1:n.349-59G>C | |
| XM_011525698.1:c.349-59G>C | XP_011524000.1:n.349-59G>C | |
| XM_011525699.1:c.349-59G>C | XP_011524001.1:n.349-59G>C | |
| XR_243810.3:n.955-59G>C | ||
| XR_243811.2:n.980-59G>C | ||
| XR_430041.2:n.1075-59G>C | ||
| XR_935066.1:n.970-487G>C | ||
| XR_935067.1:n.928-2529G>C | ||
| NM_001318760.1:c.376-59G>C | NP_001305689.1:n.376-59G>C | |
| NM_001354065.1:c.673-59G>C | NP_001340994.1:n.673-59G>C | |
| NM_001354066.1:c.877-59G>C | NP_001340995.1:n.877-59G>C | |
| NM_001354067.1:c.1063-59G>C | NP_001340996.1:n.1063-59G>C | |
| NM_001354068.1:c.832-59G>C | NP_001340997.1:n.832-59G>C | |
| NM_017512.6:c.919-59G>C | NP_059982.2:n.919-59G>C | |
| NM_202758.4:c.1021-59G>C | NP_974487.2:n.1021-59G>C | |
| NR_148706.1:n.880-59G>C | ||
| NR_148707.1:n.996-59G>C | ||
| NR_148708.1:n.1244-59G>C | ||
| NR_148709.1:n.930-59G>C | ||
| NR_148710.1:n.956-59G>C | ||
| NR_148711.1:n.807-59G>C | ||
| NR_148712.1:n.1140-59G>C | ||
| XM_017025837.1:c.334-59G>C | XP_016881326.1:n.334-59G>C | |
| XM_024451200.1:c.940-59G>C | XP_024306968.1:n.940-59G>C | |
| XM_024451201.1:c.934-59G>C | XP_024306969.1:n.934-59G>C | |
| XM_024451202.1:c.925-59G>C | XP_024306970.1:n.925-59G>C | |
| XM_024451203.1:c.895-59G>C | XP_024306971.1:n.895-59G>C | |
| XM_024451204.1:c.775-59G>C | XP_024306972.1:n.775-59G>C | |
| XM_024451205.1:c.751-59G>C | XP_024306973.1:n.751-59G>C | |
| XM_024451206.1:c.745-59G>C | XP_024306974.1:n.745-59G>C | |
| XM_024451207.1:c.709-59G>C | XP_024306975.1:n.709-59G>C | |
| XM_024451208.1:c.694-59G>C | XP_024306976.1:n.694-59G>C | |
| XM_024451209.1:c.691-59G>C | XP_024306977.1:n.691-59G>C | |
| XM_024451210.1:c.688-59G>C | XP_024306978.1:n.688-59G>C | |
| XM_024451211.1:c.649-59G>C | XP_024306979.1:n.649-59G>C | |
| XM_024451212.1:c.556-59G>C | XP_024306980.1:n.556-59G>C | |
| XM_024451213.1:c.556-59G>C | XP_024306981.1:n.556-59G>C | |
| XM_024451214.1:c.517-59G>C | XP_024306982.1:n.517-59G>C | |
| XM_024451215.1:c.502-59G>C | XP_024306983.1:n.502-59G>C | |
| XM_024451216.1:c.502-59G>C | XP_024306984.1:n.502-59G>C | |
| XM_024451217.1:c.391-59G>C | XP_024306985.1:n.391-59G>C | |
| XM_024451218.1:c.349-59G>C | XP_024306986.1:n.349-59G>C | |
| XM_024451219.1:c.349-59G>C | XP_024306987.1:n.349-59G>C | |
| XM_024451220.1:c.349-59G>C | XP_024306988.1:n.349-59G>C | |
| XR_002958180.1:n.938-2529G>C | ||
| XR_430041.4:n.1094-59G>C | ||
| NM_017512.7:c.919-59G>C MANE Select | NP_059982.2:n.919-59G>C | |
| NM_001318760.2:c.376-59G>C | NP_001305689.1:n.376-59G>C | |
| NM_001354065.2:c.673-59G>C | NP_001340994.1:n.673-59G>C | |
| NM_001354066.2:c.877-59G>C | NP_001340995.1:n.877-59G>C | |
| NM_001354067.2:c.1063-59G>C | NP_001340996.1:n.1063-59G>C | |
| NM_001354068.2:c.832-59G>C | NP_001340997.1:n.832-59G>C | |
| NM_202758.5:c.1021-59G>C | NP_974487.2:n.1021-59G>C | |
| NR_148706.2:n.846-59G>C | ||
| NR_148707.2:n.962-59G>C | ||
| NR_148708.2:n.1210-59G>C | ||
| NR_148709.2:n.896-59G>C | ||
| NR_148710.2:n.922-59G>C | ||
| NR_148711.2:n.773-59G>C | ||
| NR_148712.2:n.1106-59G>C |