Linked Data
ClinVar Variation Id:
179630
dbSNP Id:
rs727505004
ExAC:
11:76914108 C / G
gnomAD v2:
11-76914108-C-G
gnomAD v3:
11-77203063-C-G
gnomAD v4:
11-77203063-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77203063C>G , CM000673.2:g.77203063C>G | GRCh38 |
| NC_000011.9:g.76914108C>G , CM000673.1:g.76914108C>G | GRCh37 |
| NC_000011.8:g.76591756C>G | NCBI36 |
| NG_009086.1:g.79799C>G | |
| NG_009086.2:g.79818C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5172C>G MANE Select | ENSP00000386331.3:p.Pro1724= | |
| ENST00000670577.1:c.3013C>G | ||
| ENST00000409619.6:c.5025C>G | ENSP00000386635.2:p.Pro1675= | |
| ENST00000409709.7:c.5172C>G | ENSP00000386331.3:p.Pro1724= | |
| ENST00000458169.2:c.2598C>G | ENSP00000417017.2:p.Pro866= | |
| ENST00000458637.6:c.5058C>G | ENSP00000392185.2:p.Pro1686= | |
| ENST00000481328.7:n.2708C>G | ||
| NM_000260.3:c.5172C>G | NP_000251.3:p.Pro1724= | |
| NM_001127180.1:c.5058C>G | NP_001120652.1:p.Pro1686= | |
| XM_005274012.2:c.5055C>G | XP_005274069.1:p.Pro1685= | |
| XM_006718558.2:c.5163C>G | XP_006718621.1:p.Pro1721= | |
| XM_006718559.2:c.5058C>G | XP_006718622.1:p.Pro1686= | |
| XM_006718560.2:c.5055C>G | XP_006718623.1:p.Pro1685= | |
| XM_006718561.2:c.5058C>G | XP_006718624.1:p.Pro1686= | |
| XM_011545044.1:c.5172C>G | XP_011543346.1:p.Pro1724= | |
| XM_011545045.1:c.5166C>G | XP_011543347.1:p.Pro1722= | |
| XM_011545046.1:c.5139C>G | XP_011543348.1:p.Pro1713= | |
| XM_011545047.1:c.5076C>G | XP_011543349.1:p.Pro1692= | |
| XM_011545048.1:c.4947C>G | XP_011543350.1:p.Pro1649= | |
| XM_011545049.1:c.4935C>G | XP_011543351.1:p.Pro1645= | |
| XM_011545050.1:c.4908C>G | XP_011543352.1:p.Pro1636= | |
| XM_011545051.1:c.5172C>G | XP_011543353.1:p.Pro1724= | |
| XM_011545052.1:c.5172C>G | XP_011543354.1:p.Pro1724= | |
| XR_949938.1:n.5492C>G | ||
| XR_949941.1:n.5492C>G | ||
| XR_949942.1:n.5494C>G | ||
| XM_011545044.2:c.5172C>G | XP_011543346.1:p.Pro1724= | |
| XM_011545046.2:c.5262C>G | XP_011543348.2:p.Pro1754= | |
| XM_011545050.2:c.4908C>G | XP_011543352.1:p.Pro1636= | |
| XM_017017778.1:c.5256C>G | XP_016873267.1:p.Pro1752= | |
| XM_017017779.1:c.5253C>G | XP_016873268.1:p.Pro1751= | |
| XM_017017780.1:c.5262C>G | XP_016873269.1:p.Pro1754= | |
| XM_017017781.1:c.5166C>G | XP_016873270.1:p.Pro1722= | |
| XM_017017782.1:c.5148C>G | XP_016873271.1:p.Pro1716= | |
| XM_017017783.1:c.5145C>G | XP_016873272.1:p.Pro1715= | |
| XM_017017784.1:c.5145C>G | XP_016873273.1:p.Pro1715= | |
| XM_017017785.1:c.5025C>G | XP_016873274.1:p.Pro1675= | |
| XM_017017786.1:c.5262C>G | XP_016873275.1:p.Pro1754= | |
| XM_017017788.1:c.5148C>G | XP_016873277.1:p.Pro1716= | |
| XR_001747885.1:n.5277C>G | ||
| XR_001747886.1:n.5277C>G | ||
| XR_001747887.1:n.5277C>G | ||
| XR_001747888.1:n.5277C>G | ||
| NM_000260.4:c.5172C>G MANE Select | NP_000251.3:p.Pro1724= | |
| NM_001127180.2:c.5058C>G | NP_001120652.1:p.Pro1686= | |
| NM_001369365.1:c.5025C>G | NP_001356294.1:p.Pro1675= |