gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59371235 (EAS)
Genomes Max Group AF
0.59371235 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49403281A>G , CM000682.2:g.49403281A>G | GRCh38 |
| NC_000020.10:g.48019818A>G , CM000682.1:g.48019818A>G | GRCh37 |
| NC_000020.9:g.47453225A>G | NCBI36 |
| NG_041781.1:g.84364T>C | |
| NG_041781.2:g.84364T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.568-28289T>C MANE Select | ENSP00000360806.3:n.568-28289T>C | |
| ENST00000635878.1:c.96+78633T>C | ENSP00000489908.1:n.96+78633T>C | |
| ENST00000637341.1:n.207-19811A>G | ||
| ENST00000371741.5:c.568-28289T>C | ENSP00000360806.3:n.568-28289T>C | |
| ENST00000635465.1:c.568-28289T>C | ENSP00000489193.1:n.568-28289T>C | |
| NM_004975.2:c.568-28289T>C | NP_004966.1:n.568-28289T>C | |
| XM_006723784.2:c.568-28289T>C | XP_006723847.1:n.568-28289T>C | |
| XM_011528799.1:c.568-28289T>C | XP_011527101.1:n.568-28289T>C | |
| NM_004975.3:c.568-28289T>C | NP_004966.1:n.568-28289T>C | |
| XM_006723784.3:c.568-28289T>C | XP_006723847.1:n.568-28289T>C | |
| XM_011528799.2:c.568-28289T>C | XP_011527101.1:n.568-28289T>C | |
| XR_001754659.1:n.157-23371A>G | ||
| NM_004975.4:c.568-28289T>C MANE Select | NP_004966.1:n.568-28289T>C |