gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28800356 (EAS)
Genomes Max Group AF
0.28800356 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65063072T>C , CM000663.2:g.65063072T>C | GRCh38 |
| NC_000001.10:g.65528755T>C , CM000663.1:g.65528755T>C | GRCh37 |
| NC_000001.9:g.65301343T>C | NCBI36 |
| NG_023402.2:g.9675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671954.2:c.-181+4532A>G | ENSP00000500841.1:n.-181+4532A>G | |
| ENST00000672434.2:c.-162+3556A>G | ENSP00000499900.1:n.-162+3556A>G | |
| ENST00000672751.2:c.-78+4532A>G | ENSP00000500745.2:n.-78+4532A>G | |
| ENST00000673502.2:n.374+3049A>G | ||
| ENST00000699263.1:c.-387+4532A>G | ENSP00000514244.1:n.-387+4532A>G | |
| ENST00000699312.1:c.-78+3556A>G | ENSP00000514291.1:n.-78+3556A>G | |
| ENST00000699314.1:c.-856+4532A>G | ENSP00000514294.1:n.-856+4532A>G | |
| ENST00000671954.1:c.-181+4532A>G | ENSP00000500841.1:n.-181+4532A>G | |
| ENST00000672099.1:c.-384+4532A>G | ENSP00000500328.1:n.-384+4532A>G | |
| ENST00000672434.1:c.-162+3556A>G | ENSP00000499900.1:n.-162+3556A>G | |
| ENST00000672751.1:c.-78+4532A>G | ENSP00000500745.1:n.-78+4532A>G | |
| ENST00000673502.1:c.-78+3049A>G | ENSP00000500011.1:n.-78+3049A>G | |
| XM_011542510.1:c.230+3556A>G | XP_011540812.1:n.230+3556A>G | |
| NM_001321852.1:c.-78+4532A>G | NP_001308781.1:n.-78+4532A>G | |
| NM_001321853.1:c.-162+3556A>G | NP_001308782.1:n.-162+3556A>G | |
| NM_001321854.1:c.-78+3556A>G | NP_001308783.1:n.-78+3556A>G | |
| NM_001321852.2:c.-78+4532A>G | NP_001308781.1:n.-78+4532A>G | |
| NM_001321853.2:c.-162+3556A>G | NP_001308782.1:n.-162+3556A>G | |
| NM_001321854.2:c.-78+3556A>G | NP_001308783.1:n.-78+3556A>G |