gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02661878 (AFR)
Genomes Max Group AF
0.02661878 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12702062T>C , CM000686.2:g.12702062T>C | GRCh38 |
| NC_000024.9:g.14813991T>C , CM000686.1:g.14813991T>C | GRCh37 |
| NC_000024.8:g.13323385T>C | NCBI36 |
| NG_008311.1:g.5832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457658.6:n.1307+7T>C | ||
| ENST00000651177.1:c.-61+7T>C | ENSP00000498372.1:n.-61+7T>C | |
| ENST00000338981.7:c.-121+7T>C MANE Select | ENSP00000342812.3:n.-121+7T>C | |
| ENST00000493168.1:n.16+7T>C | ||
| NM_004654.3:c.-121+7T>C | NP_004645.2:n.-121+7T>C | |
| NM_004654.4:c.-121+7T>C MANE Select | NP_004645.2:n.-121+7T>C |