gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000628 (AFR)
Genomes Max Group AF
0.0000628 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.141470940C>A , CM000664.2:g.141470940C>A | GRCh38 |
| NC_000002.11:g.142228509C>A , CM000664.1:g.142228509C>A | GRCh37 |
| NC_000002.10:g.141944979C>A | NCBI36 |
| NG_051023.1:g.666524G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.343+9456G>T MANE Select | ENSP00000374135.3:n.343+9456G>T | |
| ENST00000389484.7:c.343+9456G>T | ENSP00000374135.3:n.343+9456G>T | |
| ENST00000434794.1:c.205+339339G>T | ENSP00000413239.1:n.205+339339G>T | |
| NM_018557.2:c.343+9456G>T | NP_061027.2:n.343+9456G>T | |
| XM_011511352.1:c.454+9456G>T | XP_011509654.1:n.454+9456G>T | |
| XR_923384.1:n.1693C>A | ||
| XR_923385.1:n.1793C>A | ||
| XR_923386.1:n.624-97C>A | ||
| XM_017004341.1:c.-48+9456G>T | XP_016859830.1:n.-48+9456G>T | |
| XR_001738778.1:n.2077+9456G>T | ||
| NM_018557.3:c.343+9456G>T MANE Select | NP_061027.2:n.343+9456G>T |