gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70264124 (EAS)
Genomes Max Group AF
0.70264124 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151849504T>C , CM000669.2:g.151849504T>C | GRCh38 |
| NC_000007.13:g.151546589T>C , CM000669.1:g.151546589T>C | GRCh37 |
| NC_000007.12:g.151177522T>C | NCBI36 |
| NG_007486.1:g.32728A>G | |
| NG_007486.2:g.32728A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652321.2:c.114+27003A>G | ENSP00000498886.2:n.114+27003A>G | |
| ENST00000287878.9:c.114+27003A>G MANE Select | ENSP00000287878.3:n.114+27003A>G | |
| ENST00000652321.1:c.114+27003A>G | ENSP00000498886.1:n.114+27003A>G | |
| ENST00000287878.8:c.114+27003A>G | ENSP00000287878.3:n.114+27003A>G | |
| ENST00000474383.1:n.283-12009A>G | ||
| ENST00000481434.5:n.619+27003A>G | ||
| ENST00000488258.5:c.114+27003A>G | ENSP00000420783.1:n.114+27003A>G | |
| NM_016203.3:c.114+27003A>G | NP_057287.2:n.114+27003A>G | |
| XM_005250002.2:c.114+27003A>G | XP_005250059.1:n.114+27003A>G | |
| XM_011516287.1:c.-600+27003A>G | XP_011514589.1:n.-600+27003A>G | |
| XM_005250002.4:c.114+27003A>G | XP_005250059.1:n.114+27003A>G | |
| XM_017012269.1:c.114+27003A>G | XP_016867758.1:n.114+27003A>G | |
| XM_017012278.1:c.-600+27003A>G | XP_016867767.1:n.-600+27003A>G | |
| NM_016203.4:c.114+27003A>G MANE Select | NP_057287.2:n.114+27003A>G |