gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27678826 (EAS)
Genomes Max Group AF
0.27678826 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.11482573C>T , CM000679.2:g.11482573C>T | GRCh38 |
| NC_000017.10:g.11385890C>T , CM000679.1:g.11385890C>T | GRCh37 |
| NC_000017.9:g.11326615C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441885.8:c.896-69323C>T MANE Select | ENSP00000390084.3:n.896-69323C>T | |
| ENST00000409168.7:c.800-73167C>T | ENSP00000387157.3:n.800-73167C>T | |
| ENST00000432116.7:c.896-73167C>T | ENSP00000388659.3:n.896-73167C>T | |
| ENST00000441885.7:c.896-69323C>T | ENSP00000390084.3:n.896-69323C>T | |
| NM_001173461.1:c.800-73167C>T | NP_001166932.1:n.800-73167C>T | |
| NM_001173462.1:c.896-73167C>T | NP_001166933.1:n.896-73167C>T | |
| NM_207386.3:c.896-69323C>T | NP_997269.2:n.896-69323C>T | |
| XM_011523837.1:c.896-20475C>T | XP_011522139.1:n.896-20475C>T | |
| XM_017024618.1:c.800-69323C>T | XP_016880107.1:n.800-69323C>T | |
| NM_001173462.2:c.896-73167C>T | NP_001166933.1:n.896-73167C>T | |
| NM_207386.4:c.896-69323C>T MANE Select | NP_997269.2:n.896-69323C>T |