Linked Data
dbSNP Id:
rs13335629
ExAC:
16:310380 G / A
gnomAD v2:
16-310380-G-A
gnomAD v3:
16-260381-G-A
gnomAD v4:
16-260381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.260381G>A , CM000678.2:g.260381G>A | GRCh38 |
| NC_000016.9:g.310380G>A , CM000678.1:g.310380G>A | GRCh37 |
| NC_000016.8:g.250381G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301679.7:c.577+221G>A | ENSP00000301679.2:n.577+221G>A | |
| ENST00000399932.8:c.577+221G>A MANE Select | ENSP00000382814.3:n.577+221G>A | |
| ENST00000653392.1:c.577+221G>A | ENSP00000499529.1:n.577+221G>A | |
| ENST00000654053.1:c.577+221G>A | ENSP00000499447.1:n.577+221G>A | |
| ENST00000659283.1:c.577+221G>A | ENSP00000499694.1:n.577+221G>A | |
| ENST00000666018.1:c.577+221G>A | ENSP00000499687.1:n.577+221G>A | |
| ENST00000301678.7:c.577+221G>A | ENSP00000301678.3:n.577+221G>A | |
| ENST00000301679.6:c.577+221G>A | ENSP00000301679.2:n.577+221G>A | |
| ENST00000399932.7:c.577+221G>A | ENSP00000382814.3:n.577+221G>A | |
| ENST00000420046.5:c.577+221G>A | ENSP00000398433.1:n.577+221G>A | |
| ENST00000421000.1:c.364-32G>A | ||
| ENST00000449945.5:c.550+221G>A | ENSP00000407669.1:n.550+221G>A | |
| ENST00000453430.5:c.577+221G>A | ENSP00000399150.1:n.577+221G>A | |
| ENST00000600536.1:c.577+221G>A | ENSP00000471331.1:n.577+221G>A | |
| NM_001284497.1:c.577+221G>A | NP_001271426.1:n.577+221G>A | |
| NM_032039.3:c.577+221G>A | NP_114428.1:n.577+221G>A | |
| NR_104317.1:n.1028+221G>A | ||
| XM_005255622.1:c.577+221G>A | XP_005255679.1:n.577+221G>A | |
| XM_005255623.1:c.550+221G>A | XP_005255680.1:n.550+221G>A | |
| XM_006720957.1:c.577+221G>A | XP_006721020.1:n.577+221G>A | |
| XM_011522690.1:c.577+221G>A | XP_011520992.1:n.577+221G>A | |
| XM_011522691.1:c.577+221G>A | XP_011520993.1:n.577+221G>A | |
| XM_011522692.1:c.577+221G>A | XP_011520994.1:n.577+221G>A | |
| XM_011522693.1:c.577+221G>A | XP_011520995.1:n.577+221G>A | |
| XM_011522694.1:c.577+221G>A | XP_011520996.1:n.577+221G>A | |
| XM_005255623.3:c.550+221G>A | XP_005255680.1:n.550+221G>A | |
| XM_017023760.2:c.577+221G>A | XP_016879249.1:n.577+221G>A | |
| XM_017023761.1:c.577+221G>A | XP_016879250.1:n.577+221G>A | |
| XM_017023762.1:c.577+221G>A | XP_016879251.1:n.577+221G>A | |
| XM_017023763.2:c.550+221G>A | XP_016879252.1:n.550+221G>A | |
| XM_017023764.1:c.550+221G>A | XP_016879253.1:n.550+221G>A | |
| XM_017023765.2:c.550+221G>A | XP_016879254.1:n.550+221G>A | |
| NM_032039.4:c.577+221G>A MANE Select | NP_114428.1:n.577+221G>A | |
| NM_001284497.2:c.577+221G>A | NP_001271426.1:n.577+221G>A | |
| NR_104317.2:n.753+221G>A |