dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41679666 (AFR)
Genomes Max Group AF
0.41679666 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52759028C>T , CM000680.2:g.52759028C>T | GRCh38 |
| NC_000018.9:g.50285398C>T , CM000680.1:g.50285398C>T | GRCh37 |
| NC_000018.8:g.48539396C>T | NCBI36 |
| NG_013341.1:g.423857C>T | |
| NG_013341.2:g.423857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.412+6654C>T MANE Select | ENSP00000389140.2:n.412+6654C>T | |
| ENST00000304775.12:c.213+6654C>T | ||
| ENST00000412726.5:c.343+6654C>T | ENSP00000397322.2:n.343+6654C>T | |
| ENST00000442544.6:c.412+6654C>T | ENSP00000389140.2:n.412+6654C>T | |
| ENST00000578080.1:c.557C>T | ||
| ENST00000579349.1:c.209+6654C>T | ||
| ENST00000580024.1:n.216+6654C>T | ||
| ENST00000581559.1:c.208+6654C>T | ENSP00000463463.1:n.208+6654C>T | |
| ENST00000582875.1:c.214+6654C>T | ENSP00000463131.1:n.214+6654C>T | |
| NM_005215.3:c.412+6654C>T | NP_005206.2:n.412+6654C>T | |
| XM_011525843.1:c.412+6654C>T | XP_011524145.1:n.412+6654C>T | |
| XM_011525845.1:c.412+6654C>T | XP_011524147.1:n.412+6654C>T | |
| XM_011525846.1:c.412+6654C>T | XP_011524148.1:n.412+6654C>T | |
| XM_017025568.1:c.412+6654C>T | XP_016881057.1:n.412+6654C>T | |
| XM_017025569.1:c.412+6654C>T | XP_016881058.1:n.412+6654C>T | |
| NM_005215.4:c.412+6654C>T MANE Select | NP_005206.2:n.412+6654C>T |