gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92006883 (NFE)
Genomes Max Group AF
0.92006883 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50880956C>T , CM000680.2:g.50880956C>T | GRCh38 |
| NC_000018.9:g.48407326C>T , CM000680.1:g.48407326C>T | GRCh37 |
| NC_000018.8:g.46661324C>T | NCBI36 |
| NG_016198.1:g.6895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321341.11:c.-13+1648C>T MANE Select | ENSP00000321070.5:n.-13+1648C>T | |
| ENST00000638410.1:c.-13+1648C>T | ENSP00000492272.1:n.-13+1648C>T | |
| ENST00000638937.1:c.-13+1648C>T | ENSP00000492393.1:n.-13+1648C>T | |
| ENST00000639115.1:c.-13+1648C>T | ENSP00000492733.1:n.-13+1648C>T | |
| ENST00000639255.1:c.-13+1648C>T | ENSP00000492085.1:n.-13+1648C>T | |
| ENST00000639398.1:c.-13+1648C>T | ENSP00000492309.1:n.-13+1648C>T | |
| ENST00000639665.1:c.-4+1648C>T | ENSP00000491520.1:n.-4+1648C>T | |
| ENST00000639688.1:c.-13+1648C>T | ENSP00000492377.1:n.-13+1648C>T | |
| ENST00000639850.1:c.-13+1648C>T | ENSP00000491152.1:n.-13+1648C>T | |
| ENST00000640530.1:c.-13+1648C>T | ENSP00000491724.1:n.-13+1648C>T | |
| ENST00000640965.1:c.-4+1648C>T | ENSP00000491954.1:n.-4+1648C>T | |
| ENST00000640967.1:c.-13+1648C>T | ENSP00000492067.1:n.-13+1648C>T | |
| ENST00000321341.9:c.-13+1648C>T | ENSP00000321070.5:n.-13+1648C>T | |
| ENST00000382927.3:c.-13+1648C>T | ENSP00000372384.2:n.-13+1648C>T | |
| NM_001168335.1:c.-13+1648C>T | NP_001161807.1:n.-13+1648C>T | |
| NM_002396.4:c.-13+1648C>T | NP_002387.1:n.-13+1648C>T | |
| XR_935223.1:n.705+1648C>T | ||
| XR_935223.2:n.607+1648C>T | ||
| NM_002396.5:c.-13+1648C>T MANE Select | NP_002387.1:n.-13+1648C>T | |
| NM_001168335.2:c.-13+1648C>T | NP_001161807.1:n.-13+1648C>T | |
| NR_174094.1:n.191+1648C>T |