Linked Data
ClinVar Variation Id:
483232
dbSNP Id:
rs1481419710
gnomAD v2:
16-68863675-A-G
gnomAD v3:
16-68829772-A-G
gnomAD v4:
16-68829772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829772A>G , CM000678.2:g.68829772A>G | GRCh38 |
| NC_000016.9:g.68863675A>G , CM000678.1:g.68863675A>G | GRCh37 |
| NC_000016.8:g.67421176A>G | NCBI36 |
| NG_008021.1:g.97481A>G , LRG_301:g.97481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2414A>G MANE Select | ENSP00000261769.4:p.Asp805Gly | |
| ENST00000261769.9:c.2414A>G | ENSP00000261769.4:p.Asp805Gly | |
| ENST00000422392.6:c.2231A>G | ENSP00000414946.2:p.Asp744Gly | |
| ENST00000562118.1:n.632A>G | ||
| ENST00000562836.5:n.2485A>G | ||
| ENST00000566510.5:c.*1080A>G | ENSP00000458139.1:n.*1080A>G | |
| ENST00000566612.5:c.*654A>G | ENSP00000454782.1:n.*654A>G | |
| ENST00000611625.4:c.2477A>G | ENSP00000481063.1:p.Asp826Gly | |
| ENST00000612417.4:c.1853+3218A>G | ENSP00000478360.1:n.1853+3218A>G | |
| ENST00000621016.4:c.1866-4431A>G | ENSP00000480664.1:n.1866-4431A>G | |
| NM_004360.3:c.2414A>G , LRG_301t1:c.2414A>G | NP_004351.1:p.Asp805Gly | |
| XM_011523488.1:c.1679A>G | XP_011521790.1:p.Asp560Gly | |
| XM_011523489.1:c.1679A>G | XP_011521791.1:p.Asp560Gly | |
| NM_001317184.1:c.2231A>G | NP_001304113.1:p.Asp744Gly | |
| NM_001317185.1:c.866A>G | NP_001304114.1:p.Asp289Gly | |
| NM_001317186.1:c.449A>G | NP_001304115.1:p.Asp150Gly | |
| NM_004360.4:c.2414A>G | NP_004351.1:p.Asp805Gly | |
| NM_004360.5:c.2414A>G MANE Select | NP_004351.1:p.Asp805Gly | |
| NM_001317184.2:c.2231A>G | NP_001304113.1:p.Asp744Gly | |
| NM_001317185.2:c.866A>G | NP_001304114.1:p.Asp289Gly | |
| NM_001317186.2:c.449A>G | NP_001304115.1:p.Asp150Gly |