Linked Data
dbSNP Id:
rs2298583
ExAC:
18:677302 G / A
gnomAD v2:
18-677302-G-A
gnomAD v3:
18-677302-G-A
gnomAD v4:
18-677302-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.677302G>A , CM000680.2:g.677302G>A | GRCh38 |
| NC_000018.9:g.677302G>A , CM000680.1:g.677302G>A | GRCh37 |
| NC_000018.8:g.667302G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340116.12:c.1250+43C>T | ENSP00000345974.8:n.1250+43C>T | |
| ENST00000647584.2:c.1148+43C>T MANE Select | ENSP00000497230.2:n.1148+43C>T | |
| ENST00000251101.11:c.1148+43C>T | ENSP00000251101.7:n.1148+43C>T | |
| ENST00000340116.11:c.1169+43C>T | ENSP00000345974.7:n.1169+43C>T | |
| ENST00000383578.7:c.902+43C>T | ENSP00000373072.3:n.902+43C>T | |
| ENST00000580982.5:c.920+43C>T | ENSP00000463425.1:n.920+43C>T | |
| ENST00000581475.5:c.*535+43C>T | ENSP00000464614.1:n.*535+43C>T | |
| ENST00000581928.5:n.136-1900C>T | ||
| ENST00000582745.5:n.646+43C>T | ||
| ENST00000583973.5:n.1729+43C>T | ||
| ENST00000584259.6:n.3259+43C>T | ||
| ENST00000584453.5:c.*535+43C>T | ENSP00000463448.1:n.*535+43C>T | |
| ENST00000584646.5:n.264+43C>T | ||
| ENST00000585128.6:c.968+43C>T | ||
| NM_001126123.3:c.902+43C>T | NP_001119595.1:n.902+43C>T | |
| NM_017512.5:c.1148+43C>T | NP_059982.2:n.1148+43C>T | |
| NM_202758.3:c.1169+43C>T | NP_974487.1:n.1169+43C>T | |
| XM_005258118.2:c.605+43C>T | XP_005258175.1:n.605+43C>T | |
| XM_011525677.1:c.1190+43C>T | XP_011523979.1:n.1190+43C>T | |
| XM_011525678.1:c.1181+43C>T | XP_011523980.1:n.1181+43C>T | |
| XM_011525679.1:c.1175+43C>T | XP_011523981.1:n.1175+43C>T | |
| XM_011525680.1:c.1163+43C>T | XP_011523982.1:n.1163+43C>T | |
| XM_011525681.1:c.1151+43C>T | XP_011523983.1:n.1151+43C>T | |
| XM_011525682.1:c.1124+43C>T | XP_011523984.1:n.1124+43C>T | |
| XM_011525683.1:c.1001+43C>T | XP_011523985.1:n.1001+43C>T | |
| XM_011525684.1:c.974+43C>T | XP_011523986.1:n.974+43C>T | |
| XM_011525685.1:c.962+43C>T | XP_011523987.1:n.962+43C>T | |
| XM_011525686.1:c.938+43C>T | XP_011523988.1:n.938+43C>T | |
| XM_011525687.1:c.920+43C>T | XP_011523989.1:n.920+43C>T | |
| XM_011525688.1:c.917+43C>T | XP_011523990.1:n.917+43C>T | |
| XM_011525689.1:c.785+43C>T | XP_011523991.1:n.785+43C>T | |
| XM_011525690.1:c.785+43C>T | XP_011523992.1:n.785+43C>T | |
| XM_011525691.1:c.731+43C>T | XP_011523993.1:n.731+43C>T | |
| XM_011525692.1:c.731+43C>T | XP_011523994.1:n.731+43C>T | |
| XM_011525693.1:c.731+43C>T | XP_011523995.1:n.731+43C>T | |
| XM_011525694.1:c.716+43C>T | XP_011523996.1:n.716+43C>T | |
| XM_011525695.1:c.692+43C>T | XP_011523997.1:n.692+43C>T | |
| XM_011525696.1:c.620+43C>T | XP_011523998.1:n.620+43C>T | |
| XM_011525697.1:c.578+43C>T | XP_011523999.1:n.578+43C>T | |
| XM_011525698.1:c.578+43C>T | XP_011524000.1:n.578+43C>T | |
| XM_011525699.1:c.578+43C>T | XP_011524001.1:n.578+43C>T | |
| XR_243810.3:n.1184+43C>T | ||
| XR_243811.2:n.1209+43C>T | ||
| XR_430041.2:n.1304+43C>T | ||
| XR_935066.1:n.1069+43C>T | ||
| XR_935067.1:n.928-1900C>T | ||
| NM_001318760.1:c.605+43C>T | NP_001305689.1:n.605+43C>T | |
| NM_001354065.1:c.902+43C>T | NP_001340994.1:n.902+43C>T | |
| NM_001354066.1:c.1106+43C>T | NP_001340995.1:n.1106+43C>T | |
| NM_001354067.1:c.1292+43C>T | NP_001340996.1:n.1292+43C>T | |
| NM_001354068.1:c.1061+43C>T | NP_001340997.1:n.1061+43C>T | |
| NM_017512.6:c.1148+43C>T | NP_059982.2:n.1148+43C>T | |
| NM_202758.4:c.1250+43C>T | NP_974487.2:n.1250+43C>T | |
| NR_148706.1:n.1109+43C>T | ||
| NR_148707.1:n.1225+43C>T | ||
| NR_148708.1:n.1473+43C>T | ||
| NR_148709.1:n.1159+43C>T | ||
| NR_148710.1:n.1185+43C>T | ||
| NR_148711.1:n.1036+43C>T | ||
| NR_148712.1:n.1369+43C>T | ||
| XM_017025837.1:c.563+43C>T | XP_016881326.1:n.563+43C>T | |
| XM_024451200.1:c.1169+43C>T | XP_024306968.1:n.1169+43C>T | |
| XM_024451201.1:c.1163+43C>T | XP_024306969.1:n.1163+43C>T | |
| XM_024451202.1:c.1154+43C>T | XP_024306970.1:n.1154+43C>T | |
| XM_024451203.1:c.1124+43C>T | XP_024306971.1:n.1124+43C>T | |
| XM_024451204.1:c.1004+43C>T | XP_024306972.1:n.1004+43C>T | |
| XM_024451205.1:c.980+43C>T | XP_024306973.1:n.980+43C>T | |
| XM_024451206.1:c.974+43C>T | XP_024306974.1:n.974+43C>T | |
| XM_024451207.1:c.938+43C>T | XP_024306975.1:n.938+43C>T | |
| XM_024451208.1:c.923+43C>T | XP_024306976.1:n.923+43C>T | |
| XM_024451209.1:c.920+43C>T | XP_024306977.1:n.920+43C>T | |
| XM_024451210.1:c.917+43C>T | XP_024306978.1:n.917+43C>T | |
| XM_024451211.1:c.878+43C>T | XP_024306979.1:n.878+43C>T | |
| XM_024451212.1:c.785+43C>T | XP_024306980.1:n.785+43C>T | |
| XM_024451213.1:c.785+43C>T | XP_024306981.1:n.785+43C>T | |
| XM_024451214.1:c.746+43C>T | XP_024306982.1:n.746+43C>T | |
| XM_024451215.1:c.731+43C>T | XP_024306983.1:n.731+43C>T | |
| XM_024451216.1:c.731+43C>T | XP_024306984.1:n.731+43C>T | |
| XM_024451217.1:c.620+43C>T | XP_024306985.1:n.620+43C>T | |
| XM_024451218.1:c.578+43C>T | XP_024306986.1:n.578+43C>T | |
| XM_024451219.1:c.578+43C>T | XP_024306987.1:n.578+43C>T | |
| XM_024451220.1:c.578+43C>T | XP_024306988.1:n.578+43C>T | |
| XR_002958180.1:n.938-1900C>T | ||
| XR_430041.4:n.1323+43C>T | ||
| NM_017512.7:c.1148+43C>T MANE Select | NP_059982.2:n.1148+43C>T | |
| NM_001318760.2:c.605+43C>T | NP_001305689.1:n.605+43C>T | |
| NM_001354065.2:c.902+43C>T | NP_001340994.1:n.902+43C>T | |
| NM_001354066.2:c.1106+43C>T | NP_001340995.1:n.1106+43C>T | |
| NM_001354067.2:c.1292+43C>T | NP_001340996.1:n.1292+43C>T | |
| NM_001354068.2:c.1061+43C>T | NP_001340997.1:n.1061+43C>T | |
| NM_202758.5:c.1250+43C>T | NP_974487.2:n.1250+43C>T | |
| NR_148706.2:n.1075+43C>T | ||
| NR_148707.2:n.1191+43C>T | ||
| NR_148708.2:n.1439+43C>T | ||
| NR_148709.2:n.1125+43C>T | ||
| NR_148710.2:n.1151+43C>T | ||
| NR_148711.2:n.1002+43C>T | ||
| NR_148712.2:n.1335+43C>T |