gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005463 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00005623 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243307982T>C , CM000663.2:g.243307982T>C | GRCh38 |
| NC_000001.10:g.243471284T>C , CM000663.1:g.243471284T>C | GRCh37 |
| NC_000001.9:g.241537907T>C | NCBI36 |
| NG_027811.1:g.56978T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.741-7T>C MANE Select | ENSP00000355499.3:n.741-7T>C | |
| ENST00000366541.7:c.741-7T>C | ENSP00000355499.3:n.741-7T>C | |
| ENST00000435549.1:c.81-7T>C | ENSP00000410200.1:n.81-7T>C | |
| ENST00000463012.1:n.101-7T>C | ||
| NM_006642.3:c.741-7T>C | NP_006633.1:n.741-7T>C | |
| XM_005273013.3:c.612-7T>C | XP_005273070.1:n.612-7T>C | |
| XM_005273018.1:c.318-7T>C | XP_005273075.1:n.318-7T>C | |
| XM_005273021.3:c.-163-7T>C | XP_005273078.1:n.-163-7T>C | |
| XM_005273022.2:c.9-8773T>C | XP_005273079.1:n.9-8773T>C | |
| XM_005273023.3:c.741-7T>C | XP_005273080.1:n.741-7T>C | |
| XM_006711727.2:c.771-7T>C | XP_006711790.1:n.771-7T>C | |
| XM_006711728.2:c.642-7T>C | XP_006711791.1:n.642-7T>C | |
| XM_006711729.2:c.770+3205T>C | XP_006711792.1:n.770+3205T>C | |
| XM_011544021.1:c.867-7T>C | XP_011542323.1:n.867-7T>C | |
| XM_011544022.1:c.837-7T>C | XP_011542324.1:n.837-7T>C | |
| XM_011544023.1:c.867-7T>C | XP_011542325.1:n.867-7T>C | |
| XM_011544024.1:c.867-7T>C | XP_011542326.1:n.867-7T>C | |
| XM_011544025.1:c.866+3205T>C | XP_011542327.1:n.866+3205T>C | |
| XM_011544026.1:c.867-7T>C | XP_011542328.1:n.867-7T>C | |
| XM_011544027.1:c.641+3205T>C | XP_011542329.1:n.641+3205T>C | |
| XM_011544028.1:c.642-7T>C | XP_011542330.1:n.642-7T>C | |
| XM_011544029.1:c.867-7T>C | XP_011542331.1:n.867-7T>C | |
| XR_949128.1:n.891-7T>C | ||
| NM_001350246.1:c.-163-7T>C | NP_001337175.1:n.-163-7T>C | |
| NM_001350247.1:c.-163-7T>C | NP_001337176.1:n.-163-7T>C | |
| NM_001350248.1:c.837-7T>C | NP_001337177.1:n.837-7T>C | |
| NM_001350249.1:c.447-7T>C | NP_001337178.1:n.447-7T>C | |
| NM_001350251.1:c.-163-7T>C | NP_001337180.1:n.-163-7T>C | |
| NM_006642.4:c.741-7T>C | NP_006633.1:n.741-7T>C | |
| XM_005273013.5:c.612-7T>C | XP_005273070.1:n.612-7T>C | |
| XM_005273018.2:c.318-7T>C | XP_005273075.1:n.318-7T>C | |
| XM_005273022.4:c.9-8773T>C | XP_005273079.1:n.9-8773T>C | |
| XM_005273023.5:c.741-7T>C | XP_005273080.1:n.741-7T>C | |
| XM_011544026.3:c.867-7T>C | XP_011542328.1:n.867-7T>C | |
| XM_011544028.3:c.642-7T>C | XP_011542330.1:n.642-7T>C | |
| XM_017000104.2:c.612-7T>C | XP_016855593.1:n.612-7T>C | |
| XM_017000105.2:c.741-7T>C | XP_016855594.1:n.741-7T>C | |
| XM_024452537.1:c.543-7T>C | XP_024308305.1:n.543-7T>C | |
| XM_024452539.1:c.543-7T>C | XP_024308307.1:n.543-7T>C | |
| XM_024452540.1:c.543-7T>C | XP_024308308.1:n.543-7T>C | |
| XM_024452547.1:c.447-7T>C | XP_024308315.1:n.447-7T>C | |
| XM_024452548.1:c.543-7T>C | XP_024308316.1:n.543-7T>C | |
| XM_024452549.1:c.447-7T>C | XP_024308317.1:n.447-7T>C | |
| XR_002958955.1:n.783-7T>C | ||
| XR_002958956.1:n.783-7T>C | ||
| XR_002958965.1:n.783-7T>C | ||
| NM_006642.5:c.741-7T>C MANE Select | NP_006633.1:n.741-7T>C | |
| NM_001350246.2:c.-163-7T>C | NP_001337175.1:n.-163-7T>C | |
| NM_001350247.2:c.-163-7T>C | NP_001337176.1:n.-163-7T>C | |
| NM_001350248.2:c.837-7T>C | NP_001337177.1:n.837-7T>C | |
| NM_001350249.2:c.447-7T>C | NP_001337178.1:n.447-7T>C | |
| NM_001350251.2:c.-163-7T>C | NP_001337180.1:n.-163-7T>C |