gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13772586 (SAS)
Genomes Max Group AF
0.13772586 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67887218C>T , CM000672.2:g.67887218C>T | GRCh38 |
| NC_000010.10:g.69646976C>T , CM000672.1:g.69646976C>T | GRCh37 |
| NC_000010.9:g.69316982C>T | NCBI36 |
| NG_050664.1:g.7557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.431-199C>T MANE Select | ENSP00000212015.6:n.431-199C>T | |
| ENST00000212015.10:c.431-199C>T | ENSP00000212015.6:n.431-199C>T | |
| ENST00000432464.5:c.-213-199C>T | ENSP00000409208.1:n.-213-199C>T | |
| ENST00000473922.1:n.217-199C>T | ||
| ENST00000497639.5:n.220-199C>T | ||
| NM_001142498.1:c.-213-199C>T | NP_001135970.1:n.-213-199C>T | |
| NM_012238.4:c.431-199C>T | NP_036370.2:n.431-199C>T | |
| XM_006717737.2:c.431-199C>T | XP_006717800.1:n.431-199C>T | |
| XM_011539561.1:c.-146-199C>T | XP_011537863.1:n.-146-199C>T | |
| NM_012238.5:c.431-199C>T MANE Select | NP_036370.2:n.431-199C>T | |
| NM_001142498.2:c.-213-199C>T | NP_001135970.1:n.-213-199C>T |