gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32180627 (AFR)
Genomes Max Group AF
0.32180627 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121393067T>C , CM000669.2:g.121393067T>C | GRCh38 |
| NC_000007.13:g.121033121T>C , CM000669.1:g.121033121T>C | GRCh37 |
| NC_000007.12:g.120820357T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359943.8:c.-42+3095A>G MANE Select | ENSP00000353025.3:n.-42+3095A>G | |
| ENST00000359943.7:c.-42+3095A>G | ENSP00000353025.3:n.-42+3095A>G | |
| ENST00000412653.5:c.-42+3232A>G | ENSP00000408636.1:n.-42+3232A>G | |
| ENST00000426156.1:c.-188+3095A>G | ENSP00000414940.1:n.-188+3095A>G | |
| NM_001040020.1:c.-42+3135A>G | NP_001035109.1:n.-42+3135A>G | |
| NM_014888.2:c.-42+3095A>G | NP_055703.1:n.-42+3095A>G | |
| XM_011515736.1:c.-101-140A>G | XP_011514038.1:n.-101-140A>G | |
| XM_011515737.1:c.-101-140A>G | XP_011514039.1:n.-101-140A>G | |
| XM_011515736.2:c.-101-140A>G | XP_011514038.1:n.-101-140A>G | |
| XM_011515737.2:c.-101-140A>G | XP_011514039.1:n.-101-140A>G | |
| NM_014888.3:c.-42+3095A>G MANE Select | NP_055703.1:n.-42+3095A>G | |
| NM_001040020.2:c.-42+3135A>G | NP_001035109.1:n.-42+3135A>G |