Linked Data
ClinVar Variation Id:
379386
dbSNP Id:
rs1132812
ExAC:
16:30198151 A / G
gnomAD v2:
16-30198151-A-G
gnomAD v3:
16-30186830-A-G
gnomAD v4:
16-30186830-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186830A>G , CM000678.2:g.30186830A>G | GRCh38 |
| NC_000016.9:g.30198151A>G , CM000678.1:g.30198151A>G | GRCh37 |
| NC_000016.8:g.30105652A>G | NCBI36 |
| NG_023415.1:g.8226A>G , LRG_195:g.8226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.417A>G | ||
| ENST00000219150.10:c.336A>G MANE Select | ENSP00000219150.6:p.Pro112= | |
| ENST00000219150.9:c.336A>G | ENSP00000219150.5:p.Pro112= | |
| ENST00000561815.5:c.444A>G | ENSP00000456756.1:p.Pro148= | |
| ENST00000563778.5:c.336A>G | ENSP00000456266.1:p.Pro112= | |
| ENST00000564768.1:n.149A>G | ||
| ENST00000565497.5:c.336A>G | ENSP00000456457.1:p.Pro112= | |
| ENST00000567034.5:n.804A>G | ||
| ENST00000568763.1:n.1648A>G | ||
| ENST00000568982.5:n.454A>G | ||
| ENST00000569203.5:c.336A>G | ENSP00000454752.1:p.Pro112= | |
| ENST00000569469.1:n.431+110A>G | ||
| ENST00000569970.1:c.336A>G | ENSP00000457509.1:p.Pro112= | |
| ENST00000570045.5:c.336A>G | ENSP00000455552.1:p.Pro112= | |
| ENST00000570244.5:c.213A>G | ENSP00000457332.1:p.Pro71= | |
| NM_001193333.2:c.336A>G | NP_001180262.1:p.Pro112= | |
| NM_007074.3:c.336A>G | NP_009005.1:p.Pro112= | |
| XM_011545714.1:c.336A>G | XP_011544016.1:p.Pro112= | |
| XM_011545714.2:c.336A>G | XP_011544016.1:p.Pro112= | |
| XM_017022885.2:c.336A>G | XP_016878374.1:p.Pro112= | |
| XM_017022886.1:c.336A>G | XP_016878375.1:p.Pro112= | |
| NM_007074.4:c.336A>G MANE Select | NP_009005.1:p.Pro112= | |
| NM_001193333.3:c.336A>G | NP_001180262.1:p.Pro112= |