gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47587428 (EAS)
Genomes Max Group AF
0.47587428 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.75921721G>T , CM000666.2:g.75921721G>T | GRCh38 |
| NC_000004.11:g.76842874G>T , CM000666.1:g.76842874G>T | GRCh37 |
| NC_000004.10:g.77061898G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286733.9:c.667-598C>A MANE Select | ENSP00000286733.4:n.667-598C>A | |
| ENST00000513045.6:c.78-598C>A | ||
| ENST00000286733.8:c.667-598C>A | ENSP00000286733.4:n.667-598C>A | |
| ENST00000505594.1:c.364-598C>A | ENSP00000426977.1:n.364-598C>A | |
| ENST00000507956.5:c.667-598C>A | ENSP00000427641.1:n.667-598C>A | |
| ENST00000513045.5:c.80-598C>A | ||
| ENST00000602782.5:c.291-598C>A | ||
| NM_001042402.1:c.667-598C>A | NP_001035861.1:n.667-598C>A | |
| NM_014435.3:c.667-598C>A | NP_055250.2:n.667-598C>A | |
| XM_005262920.2:c.667-598C>A | XP_005262977.1:n.667-598C>A | |
| XM_005262921.3:c.667-598C>A | XP_005262978.1:n.667-598C>A | |
| XM_005262923.2:c.667-598C>A | XP_005262980.1:n.667-598C>A | |
| XM_005262924.2:c.667-598C>A | XP_005262981.1:n.667-598C>A | |
| XM_005262925.2:c.667-598C>A | XP_005262982.1:n.667-598C>A | |
| XM_006714180.2:c.667-598C>A | XP_006714243.1:n.667-598C>A | |
| XM_011531852.1:c.667-598C>A | XP_011530154.1:n.667-598C>A | |
| XM_011531853.1:c.667-598C>A | XP_011530155.1:n.667-598C>A | |
| XM_011531854.1:c.667-598C>A | XP_011530156.1:n.667-598C>A | |
| NM_001363719.1:c.667-598C>A | NP_001350648.1:n.667-598C>A | |
| XM_005262920.4:c.667-598C>A | XP_005262977.1:n.667-598C>A | |
| XM_005262921.4:c.667-598C>A | XP_005262978.1:n.667-598C>A | |
| XM_005262923.3:c.667-598C>A | XP_005262980.1:n.667-598C>A | |
| XM_005262924.3:c.667-598C>A | XP_005262981.1:n.667-598C>A | |
| XM_006714180.3:c.667-598C>A | XP_006714243.1:n.667-598C>A | |
| XM_011531852.3:c.667-598C>A | XP_011530154.1:n.667-598C>A | |
| XM_011531854.3:c.667-598C>A | XP_011530156.1:n.667-598C>A | |
| XM_017008027.2:c.667-598C>A | XP_016863516.1:n.667-598C>A | |
| XM_017008028.2:c.667-598C>A | XP_016863517.1:n.667-598C>A | |
| XM_017008029.2:c.667-598C>A | XP_016863518.1:n.667-598C>A | |
| XM_017008030.2:c.667-598C>A | XP_016863519.1:n.667-598C>A | |
| XR_001741202.2:n.713-598C>A | ||
| NM_014435.4:c.667-598C>A MANE Select | NP_055250.2:n.667-598C>A | |
| NM_001042402.2:c.667-598C>A | NP_001035861.1:n.667-598C>A | |
| NM_001363719.2:c.667-598C>A | NP_001350648.1:n.667-598C>A |