gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.683607C>G , CM000680.2:g.683607C>G | GRCh38 |
| NC_000018.9:g.683607C>G , CM000680.1:g.683607C>G | GRCh37 |
| NC_000018.8:g.673607C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340116.12:c.886-227G>C | ENSP00000345974.8:n.886-227G>C | |
| ENST00000647584.2:c.742-227G>C MANE Select | ENSP00000497230.2:n.742-227G>C | |
| ENST00000251101.11:c.742-227G>C | ENSP00000251101.7:n.742-227G>C | |
| ENST00000340116.11:c.805-227G>C | ENSP00000345974.7:n.805-227G>C | |
| ENST00000383578.7:c.496-227G>C | ENSP00000373072.3:n.496-227G>C | |
| ENST00000577334.5:n.376-227G>C | ||
| ENST00000578647.1:n.528-212G>C | ||
| ENST00000578651.5:n.766-227G>C | ||
| ENST00000580982.5:c.514-227G>C | ENSP00000463425.1:n.514-227G>C | |
| ENST00000581475.5:c.*129-227G>C | ENSP00000464614.1:n.*129-227G>C | |
| ENST00000582745.5:n.240-227G>C | ||
| ENST00000583973.5:n.1323-227G>C | ||
| ENST00000584259.6:n.2853-227G>C | ||
| ENST00000584453.5:c.*129-227G>C | ENSP00000463448.1:n.*129-227G>C | |
| ENST00000584706.1:n.53-227G>C | ||
| ENST00000585128.6:c.562-227G>C | ||
| NM_001126123.3:c.496-227G>C | NP_001119595.1:n.496-227G>C | |
| NM_017512.5:c.742-227G>C | NP_059982.2:n.742-227G>C | |
| NM_202758.3:c.805-227G>C | NP_974487.1:n.805-227G>C | |
| XM_005258118.2:c.199-227G>C | XP_005258175.1:n.199-227G>C | |
| XM_011525677.1:c.769-212G>C | XP_011523979.1:n.769-212G>C | |
| XM_011525678.1:c.760-212G>C | XP_011523980.1:n.760-212G>C | |
| XM_011525679.1:c.769-227G>C | XP_011523981.1:n.769-227G>C | |
| XM_011525680.1:c.742-212G>C | XP_011523982.1:n.742-212G>C | |
| XM_011525681.1:c.730-212G>C | XP_011523983.1:n.730-212G>C | |
| XM_011525682.1:c.703-212G>C | XP_011523984.1:n.703-212G>C | |
| XM_011525683.1:c.580-212G>C | XP_011523985.1:n.580-212G>C | |
| XM_011525684.1:c.553-212G>C | XP_011523986.1:n.553-212G>C | |
| XM_011525685.1:c.541-212G>C | XP_011523987.1:n.541-212G>C | |
| XM_011525686.1:c.517-212G>C | XP_011523988.1:n.517-212G>C | |
| XM_011525687.1:c.514-227G>C | XP_011523989.1:n.514-227G>C | |
| XM_011525688.1:c.496-212G>C | XP_011523990.1:n.496-212G>C | |
| XM_011525689.1:c.364-212G>C | XP_011523991.1:n.364-212G>C | |
| XM_011525690.1:c.364-212G>C | XP_011523992.1:n.364-212G>C | |
| XM_011525691.1:c.310-212G>C | XP_011523993.1:n.310-212G>C | |
| XM_011525692.1:c.310-212G>C | XP_011523994.1:n.310-212G>C | |
| XM_011525693.1:c.310-212G>C | XP_011523995.1:n.310-212G>C | |
| XM_011525694.1:c.310-227G>C | XP_011523996.1:n.310-227G>C | |
| XM_011525695.1:c.271-212G>C | XP_011523997.1:n.271-212G>C | |
| XM_011525696.1:c.199-212G>C | XP_011523998.1:n.199-212G>C | |
| XM_011525697.1:c.157-212G>C | XP_011523999.1:n.157-212G>C | |
| XM_011525698.1:c.157-212G>C | XP_011524000.1:n.157-212G>C | |
| XM_011525699.1:c.157-212G>C | XP_011524001.1:n.157-212G>C | |
| XR_243810.3:n.778-227G>C | ||
| XR_243811.2:n.803-227G>C | ||
| XR_430041.2:n.940-227G>C | ||
| XR_935066.1:n.778-212G>C | ||
| XR_935067.1:n.778-212G>C | ||
| NM_001318760.1:c.199-227G>C | NP_001305689.1:n.199-227G>C | |
| NM_001354065.1:c.496-227G>C | NP_001340994.1:n.496-227G>C | |
| NM_001354066.1:c.742-227G>C | NP_001340995.1:n.742-227G>C | |
| NM_001354067.1:c.886-227G>C | NP_001340996.1:n.886-227G>C | |
| NM_001354068.1:c.697-227G>C | NP_001340997.1:n.697-227G>C | |
| NM_017512.6:c.742-227G>C | NP_059982.2:n.742-227G>C | |
| NM_202758.4:c.886-227G>C | NP_974487.2:n.886-227G>C | |
| NR_148706.1:n.703-227G>C | ||
| NR_148707.1:n.819-227G>C | ||
| NR_148708.1:n.1109-227G>C | ||
| NR_148709.1:n.780-212G>C | ||
| NR_148710.1:n.821-227G>C | ||
| NR_148711.1:n.630-227G>C | ||
| NR_148712.1:n.963-227G>C | ||
| XM_017025837.1:c.157-227G>C | XP_016881326.1:n.157-227G>C | |
| XM_024451200.1:c.748-212G>C | XP_024306968.1:n.748-212G>C | |
| XM_024451201.1:c.742-212G>C | XP_024306969.1:n.742-212G>C | |
| XM_024451202.1:c.748-227G>C | XP_024306970.1:n.748-227G>C | |
| XM_024451203.1:c.703-212G>C | XP_024306971.1:n.703-212G>C | |
| XM_024451204.1:c.598-227G>C | XP_024306972.1:n.598-227G>C | |
| XM_024451205.1:c.559-212G>C | XP_024306973.1:n.559-212G>C | |
| XM_024451206.1:c.553-212G>C | XP_024306974.1:n.553-212G>C | |
| XM_024451207.1:c.517-212G>C | XP_024306975.1:n.517-212G>C | |
| XM_024451208.1:c.517-227G>C | XP_024306976.1:n.517-227G>C | |
| XM_024451209.1:c.514-227G>C | XP_024306977.1:n.514-227G>C | |
| XM_024451210.1:c.496-212G>C | XP_024306978.1:n.496-212G>C | |
| XM_024451211.1:c.514-227G>C | XP_024306979.1:n.514-227G>C | |
| XM_024451212.1:c.364-212G>C | XP_024306980.1:n.364-212G>C | |
| XM_024451213.1:c.364-212G>C | XP_024306981.1:n.364-212G>C | |
| XM_024451214.1:c.325-212G>C | XP_024306982.1:n.325-212G>C | |
| XM_024451215.1:c.310-212G>C | XP_024306983.1:n.310-212G>C | |
| XM_024451216.1:c.325-227G>C | XP_024306984.1:n.325-227G>C | |
| XM_024451217.1:c.199-212G>C | XP_024306985.1:n.199-212G>C | |
| XM_024451218.1:c.157-212G>C | XP_024306986.1:n.157-212G>C | |
| XM_024451219.1:c.157-212G>C | XP_024306987.1:n.157-212G>C | |
| XM_024451220.1:c.157-212G>C | XP_024306988.1:n.157-212G>C | |
| XR_002958180.1:n.803-227G>C | ||
| XR_430041.4:n.959-227G>C | ||
| NM_017512.7:c.742-227G>C MANE Select | NP_059982.2:n.742-227G>C | |
| NM_001318760.2:c.199-227G>C | NP_001305689.1:n.199-227G>C | |
| NM_001354065.2:c.496-227G>C | NP_001340994.1:n.496-227G>C | |
| NM_001354066.2:c.742-227G>C | NP_001340995.1:n.742-227G>C | |
| NM_001354067.2:c.886-227G>C | NP_001340996.1:n.886-227G>C | |
| NM_001354068.2:c.697-227G>C | NP_001340997.1:n.697-227G>C | |
| NM_202758.5:c.886-227G>C | NP_974487.2:n.886-227G>C | |
| NR_148706.2:n.669-227G>C | ||
| NR_148707.2:n.785-227G>C | ||
| NR_148708.2:n.1075-227G>C | ||
| NR_148709.2:n.746-212G>C | ||
| NR_148710.2:n.787-227G>C | ||
| NR_148711.2:n.596-227G>C | ||
| NR_148712.2:n.929-227G>C |