gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7789663 (EAS)
Genomes Max Group AF
0.7789663 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220800221C>T , CM000663.2:g.220800221C>T | GRCh38 |
| NC_000001.10:g.220973563C>T , CM000663.1:g.220973563C>T | GRCh37 |
| NC_000001.9:g.219040186C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694918.1:c.447+2207C>T | ENSP00000511593.1:n.447+2207C>T | |
| ENST00000694919.1:c.754-640C>T | ENSP00000511594.1:n.754-640C>T | |
| ENST00000694922.1:c.447+2207C>T | ENSP00000511595.1:n.447+2207C>T | |
| ENST00000694923.1:n.866+1946C>T | ||
| ENST00000694924.1:n.717+2207C>T | ||
| ENST00000366910.10:c.753+2207C>T MANE Select | ENSP00000355877.5:n.753+2207C>T | |
| ENST00000651706.1:c.708+2207C>T | ENSP00000499157.1:n.708+2207C>T | |
| ENST00000366910.9:c.753+2207C>T | ENSP00000355877.5:n.753+2207C>T | |
| ENST00000407981.6:c.529+2156C>T | ||
| ENST00000443880.1:c.192+2207C>T | ENSP00000409634.1:n.192+2207C>T | |
| ENST00000472269.1:n.304+2156C>T | ||
| ENST00000496110.1:n.1471+2207C>T | ||
| NM_022746.3:c.753+2207C>T | NP_073583.3:n.753+2207C>T | |
| XM_011509900.1:c.804+2156C>T | XP_011508202.1:n.804+2156C>T | |
| XM_011509901.1:c.804+2156C>T | XP_011508203.1:n.804+2156C>T | |
| XM_011509903.1:c.555+2156C>T | XP_011508205.1:n.555+2156C>T | |
| XM_011509904.1:c.498+2156C>T | XP_011508206.1:n.498+2156C>T | |
| XM_011509900.3:c.804+2156C>T | XP_011508202.1:n.804+2156C>T | |
| XM_011509903.3:c.555+2156C>T | XP_011508205.1:n.555+2156C>T | |
| XM_011509904.3:c.498+2156C>T | XP_011508206.1:n.498+2156C>T | |
| XM_017002096.2:c.504+2207C>T | XP_016857585.1:n.504+2207C>T | |
| XM_017002097.2:c.447+2207C>T | XP_016857586.1:n.447+2207C>T | |
| XR_001737362.1:n.1176+1946C>T | ||
| XR_002957377.1:n.756+1946C>T | ||
| NM_022746.4:c.753+2207C>T MANE Select | NP_073583.3:n.753+2207C>T |