gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4601275 (EAS)
Genomes Max Group AF
0.4601275 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39058254G>A , CM000667.2:g.39058254G>A | GRCh38 |
| NC_000005.9:g.39058356G>A , CM000667.1:g.39058356G>A | GRCh37 |
| NC_000005.8:g.39094113G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296782.10:c.97+15857C>T | ENSP00000296782.5:n.97+15857C>T | |
| ENST00000514735.2:c.49+16075C>T | ENSP00000423162.2:n.49+16075C>T | |
| ENST00000711063.1:c.97+15857C>T | ENSP00000518562.1:n.97+15857C>T | |
| ENST00000357387.8:c.97+15857C>T MANE Select | ENSP00000349959.3:n.97+15857C>T | |
| ENST00000296782.9:c.97+15857C>T | ENSP00000296782.5:n.97+15857C>T | |
| ENST00000357387.7:c.97+15857C>T | ENSP00000349959.3:n.97+15857C>T | |
| ENST00000510711.5:n.61+16075C>T | ||
| ENST00000511516.5:c.97+15857C>T | ENSP00000423019.1:n.97+15857C>T | |
| ENST00000513566.1:n.119+15857C>T | ||
| ENST00000514735.1:c.49+16075C>T | ENSP00000423162.1:n.49+16075C>T | |
| NM_001285439.1:c.97+15857C>T | NP_001272368.1:n.97+15857C>T | |
| NM_001285440.1:c.-757+15857C>T | NP_001272369.1:n.-757+15857C>T | |
| NM_152756.4:c.97+15857C>T | NP_689969.2:n.97+15857C>T | |
| XM_006714463.2:c.97+15857C>T | XP_006714526.1:n.97+15857C>T | |
| XM_011514005.1:c.97+15857C>T | XP_011512307.1:n.97+15857C>T | |
| XM_006714463.3:c.97+15857C>T | XP_006714526.1:n.97+15857C>T | |
| XM_011514005.2:c.97+15857C>T | XP_011512307.1:n.97+15857C>T | |
| XM_017009311.1:c.49+16075C>T | XP_016864800.1:n.49+16075C>T | |
| XM_017009312.1:c.49+16075C>T | XP_016864801.1:n.49+16075C>T | |
| XM_017009314.2:c.-691+15857C>T | XP_016864803.1:n.-691+15857C>T | |
| XM_017009315.2:c.-691+15857C>T | XP_016864804.1:n.-691+15857C>T | |
| NM_152756.5:c.97+15857C>T MANE Select | NP_689969.2:n.97+15857C>T | |
| NM_001285439.2:c.97+15857C>T | NP_001272368.1:n.97+15857C>T | |
| NM_001285440.2:c.-757+15857C>T | NP_001272369.1:n.-757+15857C>T |