gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22245224 (EAS)
Genomes Max Group AF
0.23442808 (EAS)
Exomes Max Group AF
0.21968413 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.675307A>G , CM000680.2:g.675307A>G | GRCh38 |
| NC_000018.9:g.675307A>G , CM000680.1:g.675307A>G | GRCh37 |
| NC_000018.8:g.665307A>G | NCBI36 |
| NG_028255.1:g.22704A>G , LRG_783:g.22704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340116.12:c.1332+14T>C | ENSP00000345974.8:n.1332+14T>C | |
| ENST00000647584.2:c.1230+14T>C MANE Select | ENSP00000497230.2:n.1230+14T>C | |
| ENST00000251101.11:c.1230+14T>C | ENSP00000251101.7:n.1230+14T>C | |
| ENST00000340116.11:c.1251+14T>C | ENSP00000345974.7:n.1251+14T>C | |
| ENST00000383578.7:c.984+14T>C | ENSP00000373072.3:n.984+14T>C | |
| ENST00000580982.5:c.1002+14T>C | ENSP00000463425.1:n.1002+14T>C | |
| ENST00000581475.5:c.*617+14T>C | ENSP00000464614.1:n.*617+14T>C | |
| ENST00000581906.1:n.240+14T>C | ||
| ENST00000581928.5:n.217+14T>C | ||
| ENST00000582745.5:n.728+14T>C | ||
| ENST00000583973.5:n.1811+14T>C | ||
| ENST00000584259.6:n.3341+14T>C | ||
| ENST00000584453.5:c.*617+14T>C | ENSP00000463448.1:n.*617+14T>C | |
| ENST00000584646.5:n.346+14T>C | ||
| ENST00000585128.6:c.1050+14T>C | ||
| NM_001126123.3:c.984+14T>C | NP_001119595.1:n.984+14T>C | |
| NM_017512.5:c.1230+14T>C | NP_059982.2:n.1230+14T>C | |
| NM_202758.3:c.1251+14T>C | NP_974487.1:n.1251+14T>C | |
| XM_005258118.2:c.687+14T>C | XP_005258175.1:n.687+14T>C | |
| XM_011525677.1:c.1272+14T>C | XP_011523979.1:n.1272+14T>C | |
| XM_011525678.1:c.1263+14T>C | XP_011523980.1:n.1263+14T>C | |
| XM_011525679.1:c.1257+14T>C | XP_011523981.1:n.1257+14T>C | |
| XM_011525680.1:c.1245+14T>C | XP_011523982.1:n.1245+14T>C | |
| XM_011525681.1:c.1233+14T>C | XP_011523983.1:n.1233+14T>C | |
| XM_011525682.1:c.1206+14T>C | XP_011523984.1:n.1206+14T>C | |
| XM_011525683.1:c.1083+14T>C | XP_011523985.1:n.1083+14T>C | |
| XM_011525684.1:c.1056+14T>C | XP_011523986.1:n.1056+14T>C | |
| XM_011525685.1:c.1044+14T>C | XP_011523987.1:n.1044+14T>C | |
| XM_011525686.1:c.1020+14T>C | XP_011523988.1:n.1020+14T>C | |
| XM_011525687.1:c.1002+14T>C | XP_011523989.1:n.1002+14T>C | |
| XM_011525688.1:c.999+14T>C | XP_011523990.1:n.999+14T>C | |
| XM_011525689.1:c.867+14T>C | XP_011523991.1:n.867+14T>C | |
| XM_011525690.1:c.867+14T>C | XP_011523992.1:n.867+14T>C | |
| XM_011525691.1:c.813+14T>C | XP_011523993.1:n.813+14T>C | |
| XM_011525692.1:c.813+14T>C | XP_011523994.1:n.813+14T>C | |
| XM_011525693.1:c.813+14T>C | XP_011523995.1:n.813+14T>C | |
| XM_011525694.1:c.798+14T>C | XP_011523996.1:n.798+14T>C | |
| XM_011525695.1:c.774+14T>C | XP_011523997.1:n.774+14T>C | |
| XM_011525696.1:c.702+14T>C | XP_011523998.1:n.702+14T>C | |
| XM_011525697.1:c.660+14T>C | XP_011523999.1:n.660+14T>C | |
| XM_011525698.1:c.660+14T>C | XP_011524000.1:n.660+14T>C | |
| XM_011525699.1:c.660+14T>C | XP_011524001.1:n.660+14T>C | |
| XR_243810.3:n.1266+14T>C | ||
| XR_243811.2:n.1291+14T>C | ||
| XR_430041.2:n.1386+14T>C | ||
| XR_935066.1:n.1151+14T>C | ||
| XR_935067.1:n.1009+14T>C | ||
| NM_001318760.1:c.687+14T>C | NP_001305689.1:n.687+14T>C | |
| NM_001354065.1:c.984+14T>C | NP_001340994.1:n.984+14T>C | |
| NM_001354066.1:c.1188+14T>C | NP_001340995.1:n.1188+14T>C | |
| NM_001354067.1:c.1374+14T>C | NP_001340996.1:n.1374+14T>C | |
| NM_001354068.1:c.1143+14T>C | NP_001340997.1:n.1143+14T>C | |
| NM_017512.6:c.1230+14T>C | NP_059982.2:n.1230+14T>C | |
| NM_202758.4:c.1332+14T>C | NP_974487.2:n.1332+14T>C | |
| NR_148706.1:n.1191+14T>C | ||
| NR_148707.1:n.1307+14T>C | ||
| NR_148708.1:n.1555+14T>C | ||
| NR_148709.1:n.1241+14T>C | ||
| NR_148710.1:n.1267+14T>C | ||
| NR_148711.1:n.1118+14T>C | ||
| NR_148712.1:n.1451+14T>C | ||
| XM_017025837.1:c.645+14T>C | XP_016881326.1:n.645+14T>C | |
| XM_024451200.1:c.1251+14T>C | XP_024306968.1:n.1251+14T>C | |
| XM_024451201.1:c.1245+14T>C | XP_024306969.1:n.1245+14T>C | |
| XM_024451202.1:c.1236+14T>C | XP_024306970.1:n.1236+14T>C | |
| XM_024451203.1:c.1206+14T>C | XP_024306971.1:n.1206+14T>C | |
| XM_024451204.1:c.1086+14T>C | XP_024306972.1:n.1086+14T>C | |
| XM_024451205.1:c.1062+14T>C | XP_024306973.1:n.1062+14T>C | |
| XM_024451206.1:c.1056+14T>C | XP_024306974.1:n.1056+14T>C | |
| XM_024451207.1:c.1020+14T>C | XP_024306975.1:n.1020+14T>C | |
| XM_024451208.1:c.1005+14T>C | XP_024306976.1:n.1005+14T>C | |
| XM_024451209.1:c.1002+14T>C | XP_024306977.1:n.1002+14T>C | |
| XM_024451210.1:c.999+14T>C | XP_024306978.1:n.999+14T>C | |
| XM_024451211.1:c.960+14T>C | XP_024306979.1:n.960+14T>C | |
| XM_024451212.1:c.867+14T>C | XP_024306980.1:n.867+14T>C | |
| XM_024451213.1:c.867+14T>C | XP_024306981.1:n.867+14T>C | |
| XM_024451214.1:c.828+14T>C | XP_024306982.1:n.828+14T>C | |
| XM_024451215.1:c.813+14T>C | XP_024306983.1:n.813+14T>C | |
| XM_024451216.1:c.813+14T>C | XP_024306984.1:n.813+14T>C | |
| XM_024451217.1:c.702+14T>C | XP_024306985.1:n.702+14T>C | |
| XM_024451218.1:c.660+14T>C | XP_024306986.1:n.660+14T>C | |
| XM_024451219.1:c.660+14T>C | XP_024306987.1:n.660+14T>C | |
| XM_024451220.1:c.660+14T>C | XP_024306988.1:n.660+14T>C | |
| XR_002958180.1:n.1019+14T>C | ||
| XR_430041.4:n.1405+14T>C | ||
| NM_017512.7:c.1230+14T>C MANE Select | NP_059982.2:n.1230+14T>C | |
| NM_001318760.2:c.687+14T>C | NP_001305689.1:n.687+14T>C | |
| NM_001354065.2:c.984+14T>C | NP_001340994.1:n.984+14T>C | |
| NM_001354066.2:c.1188+14T>C | NP_001340995.1:n.1188+14T>C | |
| NM_001354067.2:c.1374+14T>C | NP_001340996.1:n.1374+14T>C | |
| NM_001354068.2:c.1143+14T>C | NP_001340997.1:n.1143+14T>C | |
| NM_202758.5:c.1332+14T>C | NP_974487.2:n.1332+14T>C | |
| NR_148706.2:n.1157+14T>C | ||
| NR_148707.2:n.1273+14T>C | ||
| NR_148708.2:n.1521+14T>C | ||
| NR_148709.2:n.1207+14T>C | ||
| NR_148710.2:n.1233+14T>C | ||
| NR_148711.2:n.1084+14T>C | ||
| NR_148712.2:n.1417+14T>C |