gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90701793 (NFE)
Genomes Max Group AF
0.90701793 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43777410T>C , CM000681.2:g.43777410T>C | GRCh38 |
| NC_000019.9:g.44281562T>C , CM000681.1:g.44281562T>C | GRCh37 |
| NC_000019.8:g.48973402T>C | NCBI36 |
| NG_052672.1:g.9730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648319.1:c.160-774A>G MANE Select | ENSP00000496939.1:n.160-774A>G | |
| ENST00000262888.7:c.160-774A>G | ENSP00000262888.3:n.160-774A>G | |
| ENST00000599720.5:c.159+3293A>G | ENSP00000472513.1:n.159+3293A>G | |
| ENST00000615047.4:c.-26-774A>G | ENSP00000485014.1:n.-26-774A>G | |
| NM_002250.2:c.160-774A>G | NP_002241.1:n.160-774A>G | |
| XM_005258882.2:c.160-2791A>G | XP_005258939.1:n.160-2791A>G | |
| XM_005258883.2:c.-26-774A>G | XP_005258940.1:n.-26-774A>G | |
| XM_011526938.1:c.160-774A>G | XP_011525240.1:n.160-774A>G | |
| XR_935823.1:n.1438-774A>G | ||
| XR_002958313.1:n.1438-774A>G | ||
| NM_002250.3:c.160-774A>G MANE Select | NP_002241.1:n.160-774A>G |