gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54311123 (NFE)
Genomes Max Group AF
0.54311123 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.9474834A>C , CM000667.2:g.9474834A>C | GRCh38 |
| NC_000005.9:g.9474946A>C , CM000667.1:g.9474946A>C | GRCh37 |
| NC_000005.8:g.9527946A>C | NCBI36 |
| NG_016410.1:g.76288T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382496.10:c.-174-36982T>G MANE Select | ENSP00000371936.5:n.-174-36982T>G | |
| ENST00000652226.1:c.-392-36982T>G | ENSP00000499013.1:n.-392-36982T>G | |
| ENST00000382496.9:c.-174-36982T>G | ENSP00000371936.5:n.-174-36982T>G | |
| NM_003966.2:c.-174-36982T>G | NP_003957.2:n.-174-36982T>G | |
| XM_006714506.2:c.-319-36982T>G | XP_006714569.1:n.-319-36982T>G | |
| XM_011514155.1:c.-174-36982T>G | XP_011512457.1:n.-174-36982T>G | |
| XM_011514156.1:c.-392-36982T>G | XP_011512458.1:n.-392-36982T>G | |
| XM_011514157.1:c.-247-36982T>G | XP_011512459.1:n.-247-36982T>G | |
| XM_011514158.1:c.-78+70750T>G | XP_011512460.1:n.-78+70750T>G | |
| XM_006714506.3:c.-319-36982T>G | XP_006714569.1:n.-319-36982T>G | |
| XM_011514155.2:c.-174-36982T>G | XP_011512457.1:n.-174-36982T>G | |
| XM_011514156.2:c.-392-36982T>G | XP_011512458.1:n.-392-36982T>G | |
| XM_011514157.2:c.-247-36982T>G | XP_011512459.1:n.-247-36982T>G | |
| XM_011514158.2:c.-78+70750T>G | XP_011512460.1:n.-78+70750T>G | |
| XM_017010016.2:c.-545-36982T>G | XP_016865505.1:n.-545-36982T>G | |
| NM_003966.3:c.-174-36982T>G MANE Select | NP_003957.2:n.-174-36982T>G |