dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48807898 (AFR)
Genomes Max Group AF
0.48807898 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92060258G>A , CM000671.2:g.92060258G>A | GRCh38 |
| NC_000009.11:g.94822540G>A , CM000671.1:g.94822540G>A | GRCh37 |
| NC_000009.10:g.93862361G>A | NCBI36 |
| NG_007950.1:g.60151C>T , LRG_272:g.60151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.971-950C>T | ||
| ENST00000686600.1:c.561-950C>T | ENSP00000509268.1:n.561-950C>T | |
| ENST00000686799.1:n.658-950C>T | ||
| ENST00000687427.1:c.561-950C>T | ENSP00000509426.1:n.561-950C>T | |
| ENST00000687817.1:c.*364-950C>T | ENSP00000508926.1:n.*364-950C>T | |
| ENST00000687972.1:c.621-950C>T | ENSP00000509208.1:n.621-950C>T | |
| ENST00000689261.1:n.468-950C>T | ||
| ENST00000689401.1:c.*811-950C>T | ENSP00000510251.1:n.*811-950C>T | |
| ENST00000689423.1:c.*811-950C>T | ENSP00000508519.1:n.*811-950C>T | |
| ENST00000690095.1:n.889-950C>T | ||
| ENST00000690139.1:c.*262-950C>T | ENSP00000510483.1:n.*262-950C>T | |
| ENST00000692458.1:n.584-950C>T | ||
| ENST00000693147.1:c.*577-950C>T | ENSP00000510358.1:n.*577-950C>T | |
| ENST00000262554.7:c.561-950C>T MANE Select | ENSP00000262554.2:n.561-950C>T | |
| ENST00000642671.1:c.606-950C>T | ENSP00000495764.1:n.606-950C>T | |
| ENST00000643599.1:c.433-950C>T | ENSP00000494770.1:n.433-950C>T | |
| ENST00000644140.1:c.*302-950C>T | ENSP00000493933.1:n.*302-950C>T | |
| ENST00000646481.1:c.433-950C>T | ENSP00000496627.1:n.433-950C>T | |
| ENST00000646534.1:c.*364-950C>T | ENSP00000495388.1:n.*364-950C>T | |
| ENST00000262554.6:c.561-950C>T | ENSP00000262554.2:n.561-950C>T | |
| ENST00000482632.5:n.708-950C>T | ||
| NM_001281303.1:c.561-950C>T | NP_001268232.1:n.561-950C>T | |
| NM_006415.3:c.561-950C>T | NP_006406.1:n.561-950C>T | |
| XM_011518138.1:c.561-950C>T | XP_011516440.1:n.561-950C>T | |
| XM_011518139.1:c.96-950C>T | XP_011516441.1:n.96-950C>T | |
| XM_011518138.2:c.561-950C>T | XP_011516440.1:n.561-950C>T | |
| XM_011518139.3:c.96-950C>T | XP_011516441.1:n.96-950C>T | |
| XM_017014200.2:c.195-950C>T | XP_016869689.1:n.195-950C>T | |
| XM_017014201.2:c.195-950C>T | XP_016869690.1:n.195-950C>T | |
| XM_024447378.1:c.96-950C>T | XP_024303146.1:n.96-950C>T | |
| XM_024447379.1:c.96-950C>T | XP_024303147.1:n.96-950C>T | |
| XR_002956744.1:n.711-950C>T | ||
| NM_006415.4:c.561-950C>T MANE Select | NP_006406.1:n.561-950C>T | |
| NM_001281303.2:c.561-950C>T | NP_001268232.1:n.561-950C>T | |
| NM_001368272.1:c.195-950C>T | NP_001355201.1:n.195-950C>T | |
| NM_001368273.1:c.96-950C>T | NP_001355202.1:n.96-950C>T |