dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14337079 (MID)
Genomes Max Group AF
0.03263894 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20589977C>T , CM000686.2:g.20589977C>T | GRCh38 |
| NC_000024.9:g.22751863C>T , CM000686.1:g.22751863C>T | GRCh37 |
| NC_000024.8:g.21161251C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361365.7:c.429+402C>T MANE Select | ENSP00000354722.2:n.429+402C>T | |
| ENST00000361365.6:c.429+402C>T | ENSP00000354722.2:n.429+402C>T | |
| ENST00000382772.3:c.378+402C>T | ENSP00000372222.3:n.378+402C>T | |
| ENST00000464196.5:n.2858+402C>T | ||
| ENST00000485584.1:n.351+402C>T | ||
| NM_001278612.1:c.378+402C>T | NP_001265541.1:n.378+402C>T | |
| NM_004681.3:c.429+402C>T | NP_004672.2:n.429+402C>T | |
| NM_004681.4:c.429+402C>T MANE Select | NP_004672.2:n.429+402C>T | |
| NM_001278612.2:c.378+402C>T | NP_001265541.1:n.378+402C>T |