gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001189 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123337618C>A , CM000668.2:g.123337618C>A | GRCh38 |
| NC_000006.11:g.123658763C>A , CM000668.1:g.123658763C>A | GRCh37 |
| NC_000006.10:g.123700462C>A | NCBI36 |
| NG_030438.1:g.304476G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.1420+1G>T MANE Select | ENSP00000333984.5:n.1420+1G>T | |
| ENST00000334268.8:c.1420+1G>T | ENSP00000333984.5:n.1420+1G>T | |
| NM_006073.3:c.1420+1G>T | NP_006064.2:n.1420+1G>T | |
| XM_011535382.1:c.1417+1G>T | XP_011533684.1:n.1417+1G>T | |
| XR_001743829.1:n.1367-14C>A | ||
| XR_942947.2:n.1437-14C>A | ||
| NM_006073.4:c.1420+1G>T MANE Select | NP_006064.2:n.1420+1G>T |