gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70386537 (AFR)
Genomes Max Group AF
0.70386537 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.676008G>C , CM000680.2:g.676008G>C | GRCh38 |
| NC_000018.9:g.676008G>C , CM000680.1:g.676008G>C | GRCh37 |
| NC_000018.8:g.666008G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340116.12:c.1251-606C>G | ENSP00000345974.8:n.1251-606C>G | |
| ENST00000647584.2:c.1149-606C>G MANE Select | ENSP00000497230.2:n.1149-606C>G | |
| ENST00000251101.11:c.1149-606C>G | ENSP00000251101.7:n.1149-606C>G | |
| ENST00000340116.11:c.1170-606C>G | ENSP00000345974.7:n.1170-606C>G | |
| ENST00000383578.7:c.903-606C>G | ENSP00000373072.3:n.903-606C>G | |
| ENST00000580982.5:c.921-606C>G | ENSP00000463425.1:n.921-606C>G | |
| ENST00000581475.5:c.*536-606C>G | ENSP00000464614.1:n.*536-606C>G | |
| ENST00000581928.5:n.136-606C>G | ||
| ENST00000582745.5:n.647-606C>G | ||
| ENST00000583973.5:n.1730-606C>G | ||
| ENST00000584259.6:n.3260-606C>G | ||
| ENST00000584453.5:c.*536-606C>G | ENSP00000463448.1:n.*536-606C>G | |
| ENST00000584646.5:n.265-606C>G | ||
| ENST00000585128.6:c.969-606C>G | ||
| NM_001126123.3:c.903-606C>G | NP_001119595.1:n.903-606C>G | |
| NM_017512.5:c.1149-606C>G | NP_059982.2:n.1149-606C>G | |
| NM_202758.3:c.1170-606C>G | NP_974487.1:n.1170-606C>G | |
| XM_005258118.2:c.606-606C>G | XP_005258175.1:n.606-606C>G | |
| XM_011525677.1:c.1191-606C>G | XP_011523979.1:n.1191-606C>G | |
| XM_011525678.1:c.1182-606C>G | XP_011523980.1:n.1182-606C>G | |
| XM_011525679.1:c.1176-606C>G | XP_011523981.1:n.1176-606C>G | |
| XM_011525680.1:c.1164-606C>G | XP_011523982.1:n.1164-606C>G | |
| XM_011525681.1:c.1152-606C>G | XP_011523983.1:n.1152-606C>G | |
| XM_011525682.1:c.1125-606C>G | XP_011523984.1:n.1125-606C>G | |
| XM_011525683.1:c.1002-606C>G | XP_011523985.1:n.1002-606C>G | |
| XM_011525684.1:c.975-606C>G | XP_011523986.1:n.975-606C>G | |
| XM_011525685.1:c.963-606C>G | XP_011523987.1:n.963-606C>G | |
| XM_011525686.1:c.939-606C>G | XP_011523988.1:n.939-606C>G | |
| XM_011525687.1:c.921-606C>G | XP_011523989.1:n.921-606C>G | |
| XM_011525688.1:c.918-606C>G | XP_011523990.1:n.918-606C>G | |
| XM_011525689.1:c.786-606C>G | XP_011523991.1:n.786-606C>G | |
| XM_011525690.1:c.786-606C>G | XP_011523992.1:n.786-606C>G | |
| XM_011525691.1:c.732-606C>G | XP_011523993.1:n.732-606C>G | |
| XM_011525692.1:c.732-606C>G | XP_011523994.1:n.732-606C>G | |
| XM_011525693.1:c.732-606C>G | XP_011523995.1:n.732-606C>G | |
| XM_011525694.1:c.717-606C>G | XP_011523996.1:n.717-606C>G | |
| XM_011525695.1:c.693-606C>G | XP_011523997.1:n.693-606C>G | |
| XM_011525696.1:c.621-606C>G | XP_011523998.1:n.621-606C>G | |
| XM_011525697.1:c.579-606C>G | XP_011523999.1:n.579-606C>G | |
| XM_011525698.1:c.579-606C>G | XP_011524000.1:n.579-606C>G | |
| XM_011525699.1:c.579-606C>G | XP_011524001.1:n.579-606C>G | |
| XR_243810.3:n.1185-606C>G | ||
| XR_243811.2:n.1210-606C>G | ||
| XR_430041.2:n.1305-606C>G | ||
| XR_935066.1:n.1070-606C>G | ||
| XR_935067.1:n.928-606C>G | ||
| NM_001318760.1:c.606-606C>G | NP_001305689.1:n.606-606C>G | |
| NM_001354065.1:c.903-606C>G | NP_001340994.1:n.903-606C>G | |
| NM_001354066.1:c.1107-606C>G | NP_001340995.1:n.1107-606C>G | |
| NM_001354067.1:c.1293-606C>G | NP_001340996.1:n.1293-606C>G | |
| NM_001354068.1:c.1062-606C>G | NP_001340997.1:n.1062-606C>G | |
| NM_017512.6:c.1149-606C>G | NP_059982.2:n.1149-606C>G | |
| NM_202758.4:c.1251-606C>G | NP_974487.2:n.1251-606C>G | |
| NR_148706.1:n.1110-606C>G | ||
| NR_148707.1:n.1226-606C>G | ||
| NR_148708.1:n.1474-606C>G | ||
| NR_148709.1:n.1160-606C>G | ||
| NR_148710.1:n.1186-606C>G | ||
| NR_148711.1:n.1037-606C>G | ||
| NR_148712.1:n.1370-606C>G | ||
| XM_017025837.1:c.564-606C>G | XP_016881326.1:n.564-606C>G | |
| XM_024451200.1:c.1170-606C>G | XP_024306968.1:n.1170-606C>G | |
| XM_024451201.1:c.1164-606C>G | XP_024306969.1:n.1164-606C>G | |
| XM_024451202.1:c.1155-606C>G | XP_024306970.1:n.1155-606C>G | |
| XM_024451203.1:c.1125-606C>G | XP_024306971.1:n.1125-606C>G | |
| XM_024451204.1:c.1005-606C>G | XP_024306972.1:n.1005-606C>G | |
| XM_024451205.1:c.981-606C>G | XP_024306973.1:n.981-606C>G | |
| XM_024451206.1:c.975-606C>G | XP_024306974.1:n.975-606C>G | |
| XM_024451207.1:c.939-606C>G | XP_024306975.1:n.939-606C>G | |
| XM_024451208.1:c.924-606C>G | XP_024306976.1:n.924-606C>G | |
| XM_024451209.1:c.921-606C>G | XP_024306977.1:n.921-606C>G | |
| XM_024451210.1:c.918-606C>G | XP_024306978.1:n.918-606C>G | |
| XM_024451211.1:c.879-606C>G | XP_024306979.1:n.879-606C>G | |
| XM_024451212.1:c.786-606C>G | XP_024306980.1:n.786-606C>G | |
| XM_024451213.1:c.786-606C>G | XP_024306981.1:n.786-606C>G | |
| XM_024451214.1:c.747-606C>G | XP_024306982.1:n.747-606C>G | |
| XM_024451215.1:c.732-606C>G | XP_024306983.1:n.732-606C>G | |
| XM_024451216.1:c.732-606C>G | XP_024306984.1:n.732-606C>G | |
| XM_024451217.1:c.621-606C>G | XP_024306985.1:n.621-606C>G | |
| XM_024451218.1:c.579-606C>G | XP_024306986.1:n.579-606C>G | |
| XM_024451219.1:c.579-606C>G | XP_024306987.1:n.579-606C>G | |
| XM_024451220.1:c.579-606C>G | XP_024306988.1:n.579-606C>G | |
| XR_002958180.1:n.938-606C>G | ||
| XR_430041.4:n.1324-606C>G | ||
| NM_017512.7:c.1149-606C>G MANE Select | NP_059982.2:n.1149-606C>G | |
| NM_001318760.2:c.606-606C>G | NP_001305689.1:n.606-606C>G | |
| NM_001354065.2:c.903-606C>G | NP_001340994.1:n.903-606C>G | |
| NM_001354066.2:c.1107-606C>G | NP_001340995.1:n.1107-606C>G | |
| NM_001354067.2:c.1293-606C>G | NP_001340996.1:n.1293-606C>G | |
| NM_001354068.2:c.1062-606C>G | NP_001340997.1:n.1062-606C>G | |
| NM_202758.5:c.1251-606C>G | NP_974487.2:n.1251-606C>G | |
| NR_148706.2:n.1076-606C>G | ||
| NR_148707.2:n.1192-606C>G | ||
| NR_148708.2:n.1440-606C>G | ||
| NR_148709.2:n.1126-606C>G | ||
| NR_148710.2:n.1152-606C>G | ||
| NR_148711.2:n.1003-606C>G | ||
| NR_148712.2:n.1336-606C>G |