Linked Data
ClinVar Variation Id:
224749
dbSNP Id:
rs869312181
gnomAD v4:
11-77192241-T-G
ERepo:
CA353603/MONDO:0019501/005
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77192241T>G , CM000673.2:g.77192241T>G | GRCh38 |
| NC_000011.9:g.76903286T>G , CM000673.1:g.76903286T>G | GRCh37 |
| NC_000011.8:g.76580934T>G | NCBI36 |
| NG_009086.1:g.68977T>G | |
| NG_009086.2:g.68996T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.4115T>G MANE Select | ENSP00000386331.3:p.Val1372Gly | |
| ENST00000670577.1:c.1956T>G | ||
| ENST00000409619.6:c.4082T>G | ENSP00000386635.2:p.Val1361Gly | |
| ENST00000409709.7:c.4115T>G | ENSP00000386331.3:p.Val1372Gly | |
| ENST00000458169.2:c.1658T>G | ENSP00000417017.2:p.Val553Gly | |
| ENST00000458637.6:c.4115T>G | ENSP00000392185.2:p.Val1372Gly | |
| ENST00000481328.7:n.1658T>G | ||
| NM_000260.3:c.4115T>G | NP_000251.3:p.Val1372Gly | |
| NM_001127180.1:c.4115T>G | NP_001120652.1:p.Val1372Gly | |
| XM_005274012.2:c.4115T>G | XP_005274069.1:p.Val1372Gly | |
| XM_006718558.2:c.4223T>G | XP_006718621.1:p.Val1408Gly | |
| XM_006718559.2:c.4115T>G | XP_006718622.1:p.Val1372Gly | |
| XM_006718560.2:c.4115T>G | XP_006718623.1:p.Val1372Gly | |
| XM_006718561.2:c.4115T>G | XP_006718624.1:p.Val1372Gly | |
| XM_011545044.1:c.4115T>G | XP_011543346.1:p.Val1372Gly | |
| XM_011545045.1:c.4223T>G | XP_011543347.1:p.Val1408Gly | |
| XM_011545046.1:c.4082T>G | XP_011543348.1:p.Val1361Gly | |
| XM_011545047.1:c.4133T>G | XP_011543349.1:p.Val1378Gly | |
| XM_011545048.1:c.4004T>G | XP_011543350.1:p.Val1335Gly | |
| XM_011545049.1:c.3992T>G | XP_011543351.1:p.Val1331Gly | |
| XM_011545050.1:c.3965T>G | XP_011543352.1:p.Val1322Gly | |
| XM_011545051.1:c.4115T>G | XP_011543353.1:p.Val1372Gly | |
| XM_011545052.1:c.4115T>G | XP_011543354.1:p.Val1372Gly | |
| XR_949938.1:n.4435T>G | ||
| XR_949941.1:n.4435T>G | ||
| XR_949942.1:n.4437T>G | ||
| XR_949943.1:n.4545T>G | ||
| XM_011545044.2:c.4115T>G | XP_011543346.1:p.Val1372Gly | |
| XM_011545046.2:c.4205T>G | XP_011543348.2:p.Val1402Gly | |
| XM_011545050.2:c.3965T>G | XP_011543352.1:p.Val1322Gly | |
| XM_017017778.1:c.4313T>G | XP_016873267.1:p.Val1438Gly | |
| XM_017017779.1:c.4313T>G | XP_016873268.1:p.Val1438Gly | |
| XM_017017780.1:c.4205T>G | XP_016873269.1:p.Val1402Gly | |
| XM_017017781.1:c.4223T>G | XP_016873270.1:p.Val1408Gly | |
| XM_017017782.1:c.4205T>G | XP_016873271.1:p.Val1402Gly | |
| XM_017017783.1:c.4205T>G | XP_016873272.1:p.Val1402Gly | |
| XM_017017784.1:c.4205T>G | XP_016873273.1:p.Val1402Gly | |
| XM_017017785.1:c.4082T>G | XP_016873274.1:p.Val1361Gly | |
| XM_017017786.1:c.4205T>G | XP_016873275.1:p.Val1402Gly | |
| XM_017017787.1:c.4313T>G | XP_016873276.1:p.Val1438Gly | |
| XM_017017788.1:c.4205T>G | XP_016873277.1:p.Val1402Gly | |
| XR_001747885.1:n.4220T>G | ||
| XR_001747886.1:n.4220T>G | ||
| XR_001747887.1:n.4220T>G | ||
| XR_001747888.1:n.4220T>G | ||
| XR_001747889.1:n.4328T>G | ||
| NM_000260.4:c.4115T>G MANE Select | NP_000251.3:p.Val1372Gly | |
| NM_001127180.2:c.4115T>G | NP_001120652.1:p.Val1372Gly | |
| NM_001369365.1:c.4082T>G | NP_001356294.1:p.Val1361Gly |