gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48757964 (AFR)
Genomes Max Group AF
0.48757964 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103018488T>C , CM000676.2:g.103018488T>C | GRCh38 |
| NC_000014.8:g.103484825T>C , CM000676.1:g.103484825T>C | GRCh37 |
| NC_000014.7:g.102554578T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559043.2:c.176-6300A>G | ENSP00000453384.2:n.176-6300A>G | |
| ENST00000361246.7:c.176-6300A>G MANE Select | ENSP00000355237.2:n.176-6300A>G | |
| ENST00000361246.6:c.176-6300A>G | ENSP00000355237.2:n.176-6300A>G | |
| NM_006035.3:c.176-6300A>G | NP_006026.3:n.176-6300A>G | |
| XM_005268227.1:c.176-6300A>G | XP_005268284.1:n.176-6300A>G | |
| XM_005268228.1:c.176-6300A>G | XP_005268285.1:n.176-6300A>G | |
| XM_005268229.1:c.176-6300A>G | XP_005268286.1:n.176-6300A>G | |
| XM_005268230.3:c.176-6300A>G | XP_005268287.1:n.176-6300A>G | |
| XM_011537387.1:c.176-6300A>G | XP_011535689.1:n.176-6300A>G | |
| XR_943564.1:n.238-6300A>G | ||
| XM_005268230.4:c.176-6300A>G | XP_005268287.1:n.176-6300A>G | |
| NM_006035.4:c.176-6300A>G MANE Select | NP_006026.3:n.176-6300A>G |