gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43453878 (SAS)
Genomes Max Group AF
0.43453878 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71988142G>A , CM000678.2:g.71988142G>A | GRCh38 |
| NC_000016.9:g.72022041G>A , CM000678.1:g.72022041G>A | GRCh37 |
| NC_000016.8:g.70579542G>A | NCBI36 |
| NG_032958.1:g.16837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620267.2:c.586-1673C>T MANE Select | ENSP00000480090.1:n.586-1673C>T | |
| ENST00000620267.1:c.586-1673C>T | ENSP00000480090.1:n.586-1673C>T | |
| NM_181536.1:c.586-1673C>T | NP_853514.1:n.586-1673C>T | |
| XM_017023201.1:c.586-1673C>T | XP_016878690.1:n.586-1673C>T | |
| XM_017023202.1:c.586-1673C>T | XP_016878691.1:n.586-1673C>T | |
| XM_017023203.1:c.586-1673C>T | XP_016878692.1:n.586-1673C>T | |
| XM_017023204.1:c.586-1673C>T | XP_016878693.1:n.586-1673C>T | |
| XM_024450254.1:c.583-1673C>T | XP_024306022.1:n.583-1673C>T | |
| XM_024450255.1:c.586-1673C>T | XP_024306023.1:n.586-1673C>T | |
| XM_024450256.1:c.586-1673C>T | XP_024306024.1:n.586-1673C>T | |
| XM_024450257.1:c.586-1673C>T | XP_024306025.1:n.586-1673C>T | |
| XM_024450258.1:c.33+302C>T | XP_024306026.1:n.33+302C>T | |
| XM_024450259.1:c.33+302C>T | XP_024306027.1:n.33+302C>T | |
| XM_024450260.1:c.-123-1673C>T | XP_024306028.1:n.-123-1673C>T | |
| NM_181536.2:c.586-1673C>T MANE Select | NP_853514.1:n.586-1673C>T |