gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008068 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00009205 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90617863C>T , CM000667.2:g.90617863C>T | GRCh38 |
| NC_000005.9:g.89913680C>T , CM000667.1:g.89913680C>T | GRCh37 |
| NC_000005.8:g.89949436C>T | NCBI36 |
| NG_007083.1:g.64064C>T | |
| NG_007083.2:g.93520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.267C>T MANE Select | ENSP00000384582.2:p.Ala89= | |
| ENST00000638316.1:n.477C>T | ||
| ENST00000638638.1:n.674C>T | ||
| ENST00000640109.1:n.363C>T | ||
| ENST00000640281.1:n.326C>T | ||
| ENST00000405460.6:c.267C>T | ENSP00000384582.2:p.Ala89= | |
| ENST00000508842.5:c.279C>T | ENSP00000425936.1:p.Ala93= | |
| NM_032119.3:c.267C>T | NP_115495.3:p.Ala89= | |
| NR_003149.1:n.363C>T | ||
| XM_011543675.1:c.267C>T | XP_011541977.1:p.Ala89= | |
| XM_011543676.1:c.267C>T | XP_011541978.1:p.Ala89= | |
| XM_011543678.1:c.267C>T | XP_011541980.1:p.Ala89= | |
| XM_011543679.1:c.267C>T | XP_011541981.1:p.Ala89= | |
| NM_032119.4:c.267C>T MANE Select | NP_115495.3:p.Ala89= | |
| XM_017009963.2:c.267C>T | XP_016865452.1:p.Ala89= | |
| XM_017009964.2:c.267C>T | XP_016865453.1:p.Ala89= | |
| XM_017009965.1:c.264C>T | XP_016865454.1:p.Ala88= | |
| XM_017009966.2:c.267C>T | XP_016865455.1:p.Ala89= | |
| XM_017009967.1:c.267C>T | XP_016865456.1:p.Ala89= | |
| XM_017009968.2:c.267C>T | XP_016865457.1:p.Ala89= | |
| XM_017009969.2:c.267C>T | XP_016865458.1:p.Ala89= | |
| XM_017009970.2:c.267C>T | XP_016865459.1:p.Ala89= | |
| XM_017009971.2:c.267C>T | XP_016865460.1:p.Ala89= | |
| XM_017009974.2:c.267C>T | XP_016865463.1:p.Ala89= | |
| NR_003149.2:n.366C>T |