gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17000397 (MID)
Genomes Max Group AF
0.14057263 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122455405C>T , CM000672.2:g.122455405C>T | GRCh38 |
| NC_000010.10:g.124214921C>T , CM000672.1:g.124214921C>T | GRCh37 |
| NC_000010.9:g.124204911C>T | NCBI36 |
| NG_011725.1:g.5743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528446.1:c.297+381C>T MANE Select | ENSP00000436682.1:n.297+381C>T | |
| NM_001099667.1:c.297+381C>T | NP_001093137.1:n.297+381C>T | |
| XR_946382.1:n.1827+3090G>A | ||
| XR_946383.1:n.1827+3090G>A | ||
| XR_946384.1:n.1576+3090G>A | ||
| XR_946385.1:n.1828-384G>A | ||
| NM_001099667.2:c.297+381C>T | NP_001093137.1:n.297+381C>T | |
| XR_946382.2:n.1855+3090G>A | ||
| XR_946383.2:n.1855+3090G>A | ||
| XR_946384.2:n.1580+3090G>A | ||
| XR_946385.2:n.1856-384G>A | ||
| NM_001099667.3:c.297+381C>T MANE Select | NP_001093137.1:n.297+381C>T |