Linked Data
ClinVar Variation Id:
185872
dbSNP Id:
rs786202524
gnomAD v2:
16-23641198-T-C
gnomAD v3:
16-23629877-T-C
gnomAD v4:
16-23629877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629877T>C , CM000678.2:g.23629877T>C | GRCh38 |
| NC_000016.9:g.23641198T>C , CM000678.1:g.23641198T>C | GRCh37 |
| NC_000016.8:g.23548699T>C | NCBI36 |
| NG_007406.1:g.16481A>G , LRG_308:g.16481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2283A>G | ENSP00000460666.3:p.Gln761= | |
| ENST00000565038.2:c.212-602A>G | ENSP00000459882.2:n.212-602A>G | |
| ENST00000566069.6:c.2277A>G | ENSP00000459237.2:p.Gln759= | |
| ENST00000697377.2:c.2283A>G | ENSP00000513286.2:p.Gln761= | |
| ENST00000697379.2:c.2283A>G | ENSP00000513287.2:p.Gln761= | |
| ENST00000561514.2:c.1392A>G | ENSP00000460666.2:p.Gln464= | |
| ENST00000697374.1:c.1392A>G | ENSP00000513284.1:p.Gln464= | |
| ENST00000697375.1:n.3624A>G | ||
| ENST00000697376.1:c.1392A>G | ENSP00000513285.1:p.Gln464= | |
| ENST00000697377.1:c.1392A>G | ENSP00000513286.1:p.Gln464= | |
| ENST00000697378.1:n.2797A>G | ||
| ENST00000697379.1:c.1392A>G | ENSP00000513287.1:p.Gln464= | |
| ENST00000697380.1:n.1205A>G | ||
| ENST00000697381.1:n.972A>G | ||
| ENST00000697382.1:c.1392A>G | ENSP00000513288.1:p.Gln464= | |
| ENST00000697383.1:c.49-602A>G | ENSP00000513289.1:n.49-602A>G | |
| ENST00000697384.1:n.2431A>G | ||
| ENST00000261584.9:c.2277A>G MANE Select | ENSP00000261584.4:p.Gln759= | |
| ENST00000261584.8:c.2277A>G | ENSP00000261584.4:p.Gln759= | |
| ENST00000565038.1:c.87-602A>G | ||
| ENST00000568219.5:c.1392A>G | ENSP00000454703.2:p.Gln464= | |
| NM_024675.3:c.2277A>G , LRG_308t1:c.2277A>G | NP_078951.2:p.Gln759= | |
| XM_011545946.1:c.2283A>G | XP_011544248.1:p.Gln761= | |
| XM_011545947.1:c.2283A>G | XP_011544249.1:p.Gln761= | |
| XM_011545948.1:c.1392A>G | XP_011544250.1:p.Gln464= | |
| XR_950851.1:n.3073A>G | ||
| XM_011545946.2:c.2283A>G | XP_011544248.1:p.Gln761= | |
| XM_011545947.2:c.2283A>G | XP_011544249.1:p.Gln761= | |
| XM_011545948.2:c.1392A>G | XP_011544250.1:p.Gln464= | |
| XM_017023671.1:c.2283A>G | XP_016879160.1:p.Gln761= | |
| XM_017023672.2:c.2277A>G | XP_016879161.1:p.Gln759= | |
| XM_017023673.2:c.2277A>G | XP_016879162.1:p.Gln759= | |
| NM_024675.4:c.2277A>G MANE Select | NP_078951.2:p.Gln759= |