Linked Data
dbSNP Id:
rs370723527
ExAC:
16:30198098 A / G
gnomAD v2:
16-30198098-A-G
gnomAD v3:
16-30186777-A-G
gnomAD v4:
16-30186777-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186777A>G , CM000678.2:g.30186777A>G | GRCh38 |
| NC_000016.9:g.30198098A>G , CM000678.1:g.30198098A>G | GRCh37 |
| NC_000016.8:g.30105599A>G | NCBI36 |
| NG_023415.1:g.8173A>G , LRG_195:g.8173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.364A>G | ||
| ENST00000219150.10:c.322-39A>G MANE Select | ENSP00000219150.6:n.322-39A>G | |
| ENST00000219150.9:c.322-39A>G | ENSP00000219150.5:n.322-39A>G | |
| ENST00000561815.5:c.430-39A>G | ENSP00000456756.1:n.430-39A>G | |
| ENST00000563778.5:c.322-39A>G | ENSP00000456266.1:n.322-39A>G | |
| ENST00000564768.1:n.96A>G | ||
| ENST00000565497.5:c.322-39A>G | ENSP00000456457.1:n.322-39A>G | |
| ENST00000567034.5:n.790-39A>G | ||
| ENST00000568763.1:n.1634-39A>G | ||
| ENST00000568982.5:n.440-39A>G | ||
| ENST00000569203.5:c.322-39A>G | ENSP00000454752.1:n.322-39A>G | |
| ENST00000569469.1:n.431+57A>G | ||
| ENST00000569970.1:c.322-39A>G | ENSP00000457509.1:n.322-39A>G | |
| ENST00000570045.5:c.322-39A>G | ENSP00000455552.1:n.322-39A>G | |
| ENST00000570244.5:c.199-39A>G | ENSP00000457332.1:n.199-39A>G | |
| NM_001193333.2:c.322-39A>G | NP_001180262.1:n.322-39A>G | |
| NM_007074.3:c.322-39A>G | NP_009005.1:n.322-39A>G | |
| XM_011545714.1:c.322-39A>G | XP_011544016.1:n.322-39A>G | |
| XM_011545714.2:c.322-39A>G | XP_011544016.1:n.322-39A>G | |
| XM_017022885.2:c.322-39A>G | XP_016878374.1:n.322-39A>G | |
| XM_017022886.1:c.322-39A>G | XP_016878375.1:n.322-39A>G | |
| NM_007074.4:c.322-39A>G MANE Select | NP_009005.1:n.322-39A>G | |
| NM_001193333.3:c.322-39A>G | NP_001180262.1:n.322-39A>G |