Linked Data
ClinVar Variation Id:
178489
dbSNP Id:
rs377388669
ExAC:
11:76914189 G / T
gnomAD v2:
11-76914189-G-T
gnomAD v3:
11-77203144-G-T
gnomAD v4:
11-77203144-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77203144G>T , CM000673.2:g.77203144G>T | GRCh38 |
| NC_000011.9:g.76914189G>T , CM000673.1:g.76914189G>T | GRCh37 |
| NC_000011.8:g.76591837G>T | NCBI36 |
| NG_009086.1:g.79880G>T | |
| NG_009086.2:g.79899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5253G>T MANE Select | ENSP00000386331.3:p.Pro1751= | |
| ENST00000670577.1:c.3094G>T | ||
| ENST00000409619.6:c.5106G>T | ENSP00000386635.2:p.Pro1702= | |
| ENST00000409709.7:c.5253G>T | ENSP00000386331.3:p.Pro1751= | |
| ENST00000458169.2:c.2679G>T | ENSP00000417017.2:p.Pro893= | |
| ENST00000458637.6:c.5139G>T | ENSP00000392185.2:p.Pro1713= | |
| ENST00000481328.7:n.2789G>T | ||
| NM_000260.3:c.5253G>T | NP_000251.3:p.Pro1751= | |
| NM_001127180.1:c.5139G>T | NP_001120652.1:p.Pro1713= | |
| XM_005274012.2:c.5136G>T | XP_005274069.1:p.Pro1712= | |
| XM_006718558.2:c.5244G>T | XP_006718621.1:p.Pro1748= | |
| XM_006718559.2:c.5139G>T | XP_006718622.1:p.Pro1713= | |
| XM_006718560.2:c.5136G>T | XP_006718623.1:p.Pro1712= | |
| XM_006718561.2:c.5139G>T | XP_006718624.1:p.Pro1713= | |
| XM_011545044.1:c.5253G>T | XP_011543346.1:p.Pro1751= | |
| XM_011545045.1:c.5247G>T | XP_011543347.1:p.Pro1749= | |
| XM_011545046.1:c.5220G>T | XP_011543348.1:p.Pro1740= | |
| XM_011545047.1:c.5157G>T | XP_011543349.1:p.Pro1719= | |
| XM_011545048.1:c.5028G>T | XP_011543350.1:p.Pro1676= | |
| XM_011545049.1:c.5016G>T | XP_011543351.1:p.Pro1672= | |
| XM_011545050.1:c.4989G>T | XP_011543352.1:p.Pro1663= | |
| XM_011545051.1:c.5253G>T | XP_011543353.1:p.Pro1751= | |
| XM_011545052.1:c.5253G>T | XP_011543354.1:p.Pro1751= | |
| XR_949938.1:n.5573G>T | ||
| XR_949941.1:n.5573G>T | ||
| XR_949942.1:n.5575G>T | ||
| XM_011545044.2:c.5253G>T | XP_011543346.1:p.Pro1751= | |
| XM_011545046.2:c.5343G>T | XP_011543348.2:p.Pro1781= | |
| XM_011545050.2:c.4989G>T | XP_011543352.1:p.Pro1663= | |
| XM_017017778.1:c.5337G>T | XP_016873267.1:p.Pro1779= | |
| XM_017017779.1:c.5334G>T | XP_016873268.1:p.Pro1778= | |
| XM_017017780.1:c.5343G>T | XP_016873269.1:p.Pro1781= | |
| XM_017017781.1:c.5247G>T | XP_016873270.1:p.Pro1749= | |
| XM_017017782.1:c.5229G>T | XP_016873271.1:p.Pro1743= | |
| XM_017017783.1:c.5226G>T | XP_016873272.1:p.Pro1742= | |
| XM_017017784.1:c.5226G>T | XP_016873273.1:p.Pro1742= | |
| XM_017017785.1:c.5106G>T | XP_016873274.1:p.Pro1702= | |
| XM_017017786.1:c.5343G>T | XP_016873275.1:p.Pro1781= | |
| XM_017017788.1:c.5229G>T | XP_016873277.1:p.Pro1743= | |
| XR_001747885.1:n.5358G>T | ||
| XR_001747886.1:n.5358G>T | ||
| XR_001747887.1:n.5358G>T | ||
| XR_001747888.1:n.5358G>T | ||
| NM_000260.4:c.5253G>T MANE Select | NP_000251.3:p.Pro1751= | |
| NM_001127180.2:c.5139G>T | NP_001120652.1:p.Pro1713= | |
| NM_001369365.1:c.5106G>T | NP_001356294.1:p.Pro1702= |