Linked Data
ClinVar Variation Id:
205177
dbSNP Id:
rs143781303
ExAC:
15:68500647 T / C
gnomAD v2:
15-68500647-T-C
gnomAD v4:
15-68208309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208309T>C , CM000677.2:g.68208309T>C | GRCh38 |
| NC_000015.9:g.68500647T>C , CM000677.1:g.68500647T>C | GRCh37 |
| NC_000015.8:g.66287701T>C | NCBI36 |
| NG_008764.2:g.53903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.767A>G MANE Select | ENSP00000249806.5:p.Asp256Gly | |
| ENST00000562767.2:c.84-10681A>G | ENSP00000456336.1:n.84-10681A>G | |
| ENST00000565471.6:c.308A>G | ENSP00000457384.1:p.Asp103Gly | |
| ENST00000635747.1:c.*670A>G | ENSP00000490627.1:n.*670A>G | |
| ENST00000636212.1:c.*437A>G | ENSP00000489851.1:n.*437A>G | |
| ENST00000636674.1:n.1869A>G | ||
| ENST00000636964.1:n.2295A>G | ||
| ENST00000637054.1:c.198+10227A>G | ENSP00000490807.1:n.198+10227A>G | |
| ENST00000637329.1:c.736A>G | ||
| ENST00000637450.1:c.*421A>G | ENSP00000490204.1:n.*421A>G | |
| ENST00000637494.1:c.479A>G | ENSP00000490057.1:p.Asp160Gly | |
| ENST00000637667.1:c.668A>G | ENSP00000489843.1:p.Asp223Gly | |
| ENST00000637823.1:c.592A>G | ||
| ENST00000637888.1:c.198+10227A>G | ENSP00000490546.1:n.198+10227A>G | |
| ENST00000638076.1:c.*370A>G | ENSP00000490373.1:n.*370A>G | |
| ENST00000638144.1:n.410A>G | ||
| ENST00000646164.1:c.39-8628A>G | ||
| ENST00000249806.9:c.767A>G | ENSP00000249806.5:p.Asp256Gly | |
| ENST00000538696.5:c.863A>G | ENSP00000445770.1:p.Asp288Gly | |
| ENST00000562767.1:c.84-10681A>G | ENSP00000456336.1:n.84-10681A>G | |
| ENST00000565471.5:c.308A>G | ENSP00000457384.1:p.Asp103Gly | |
| ENST00000566347.5:c.578A>G | ENSP00000457783.1:p.Asp193Gly | |
| ENST00000567060.5:c.*165A>G | ENSP00000454818.1:n.*165A>G | |
| NM_017882.2:c.767A>G | NP_060352.1:p.Asp256Gly | |
| NM_017882.3:c.767A>G MANE Select | NP_060352.1:p.Asp256Gly |