gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52601785 (AFR)
Genomes Max Group AF
0.52232551 (AFR)
Exomes Max Group AF
0.52668701 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35381507C>T , CM000671.2:g.35381507C>T | GRCh38 |
| NC_000009.11:g.35381504C>T , CM000671.1:g.35381504C>T | GRCh37 |
| NC_000009.10:g.35371504C>T | NCBI36 |
| NG_033014.1:g.224516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635942.2:c.10492-49C>T MANE Select | ENSP00000490228.1:n.10492-49C>T | |
| ENST00000635942.1:c.10492-49C>T | ENSP00000490228.1:n.10492-49C>T | |
| ENST00000636694.1:c.3385-49C>T | ENSP00000490683.1:n.3385-49C>T | |
| ENST00000637271.1:n.1593-49C>T | ||
| ENST00000378495.7:c.2245-49C>T | ENSP00000367756.3:n.2245-49C>T | |
| ENST00000378496.8:c.1006-49C>T | ENSP00000367757.5:n.1006-49C>T | |
| ENST00000396787.5:c.2281-49C>T | ENSP00000380006.1:n.2281-49C>T | |
| ENST00000617908.4:c.1006-49C>T | ENSP00000484432.1:n.1006-49C>T | |
| ENST00000619578.4:c.2245-49C>T | ENSP00000479261.1:n.2245-49C>T | |
| ENST00000634487.1:c.*876-49C>T | ENSP00000489581.1:n.*876-49C>T | |
| NM_006377.3:c.2245-49C>T | NP_006368.3:n.2245-49C>T | |
| XM_011517681.1:c.3385-49C>T | XP_011515983.1:n.3385-49C>T | |
| XM_011517682.1:c.3385-49C>T | XP_011515984.1:n.3385-49C>T | |
| XM_011517683.1:c.3385-49C>T | XP_011515985.1:n.3385-49C>T | |
| XM_011517684.1:c.2245-49C>T | XP_011515986.1:n.2245-49C>T | |
| XM_011517685.1:c.2245-49C>T | XP_011515987.1:n.2245-49C>T | |
| XM_011517686.1:c.1135-49C>T | XP_011515988.1:n.1135-49C>T | |
| NM_001330653.1:c.2245-49C>T | NP_001317582.1:n.2245-49C>T | |
| XM_011517681.2:c.3385-49C>T | XP_011515983.1:n.3385-49C>T | |
| XM_011517682.2:c.3385-49C>T | XP_011515984.1:n.3385-49C>T | |
| XM_011517683.2:c.3385-49C>T | XP_011515985.1:n.3385-49C>T | |
| XM_011517685.3:c.2245-49C>T | XP_011515987.1:n.2245-49C>T | |
| XM_011517686.2:c.1135-49C>T | XP_011515988.1:n.1135-49C>T | |
| XM_017014191.1:c.1135-49C>T | XP_016869680.1:n.1135-49C>T | |
| XM_017014192.1:c.1000-49C>T | XP_016869681.1:n.1000-49C>T | |
| NM_001330653.2:c.2245-49C>T | NP_001317582.1:n.2245-49C>T | |
| NM_001371186.1:c.2245-49C>T | NP_001358115.1:n.2245-49C>T | |
| NM_001371187.1:c.3385-49C>T | NP_001358116.1:n.3385-49C>T | |
| NM_001371188.1:c.1135-49C>T | NP_001358117.1:n.1135-49C>T | |
| NM_001371189.1:c.10492-49C>T | NP_001358118.1:n.10492-49C>T | |
| NM_006377.5:c.2245-49C>T | NP_006368.3:n.2245-49C>T | |
| NM_001330653.3:c.2245-49C>T | NP_001317582.1:n.2245-49C>T | |
| NM_001371186.2:c.2245-49C>T | NP_001358115.1:n.2245-49C>T | |
| NM_001371187.2:c.3385-49C>T | NP_001358116.1:n.3385-49C>T | |
| NM_001371188.2:c.1135-49C>T | NP_001358117.1:n.1135-49C>T | |
| NM_001371189.2:c.10492-49C>T MANE Select | NP_001358118.1:n.10492-49C>T | |
| NM_001387551.1:c.2281-49C>T | NP_001374480.1:n.2281-49C>T | |
| NM_001387553.1:c.2098-49C>T | NP_001374482.1:n.2098-49C>T | |
| NM_001387554.1:c.2098-49C>T | NP_001374483.1:n.2098-49C>T | |
| NM_001387555.1:c.3385-49C>T | NP_001374484.1:n.3385-49C>T | |
| NM_006377.6:c.2245-49C>T | NP_006368.3:n.2245-49C>T | |
| NR_170667.1:n.2549-49C>T |