Linked Data
dbSNP Id:
rs958153438
gnomAD v2:
11-76918343-G-C
gnomAD v3:
11-77207298-G-C
gnomAD v4:
11-77207298-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77207298G>C , CM000673.2:g.77207298G>C | GRCh38 |
| NC_000011.9:g.76918343G>C , CM000673.1:g.76918343G>C | GRCh37 |
| NC_000011.8:g.76595991G>C | NCBI36 |
| NG_009086.1:g.84034G>C | |
| NG_009086.2:g.84053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5752G>C MANE Select | ENSP00000386331.3:p.Val1918Leu | |
| ENST00000670577.1:c.3579G>C | ||
| ENST00000409619.6:c.5605G>C | ENSP00000386635.2:p.Val1869Leu | |
| ENST00000409709.7:c.5752G>C | ENSP00000386331.3:p.Val1918Leu | |
| ENST00000458169.2:c.3178G>C | ENSP00000417017.2:p.Val1060Leu | |
| ENST00000458637.6:c.5638G>C | ENSP00000392185.2:p.Val1880Leu | |
| ENST00000481328.7:n.3288G>C | ||
| ENST00000605744.1:n.666G>C | ||
| NM_000260.3:c.5752G>C | NP_000251.3:p.Val1918Leu | |
| NM_001127180.1:c.5638G>C | NP_001120652.1:p.Val1880Leu | |
| XM_005274012.2:c.5635G>C | XP_005274069.1:p.Val1879Leu | |
| XM_006718558.2:c.5743G>C | XP_006718621.1:p.Val1915Leu | |
| XM_006718559.2:c.5638G>C | XP_006718622.1:p.Val1880Leu | |
| XM_006718560.2:c.5635G>C | XP_006718623.1:p.Val1879Leu | |
| XM_006718561.2:c.5638G>C | XP_006718624.1:p.Val1880Leu | |
| XM_011545044.1:c.5752G>C | XP_011543346.1:p.Val1918Leu | |
| XM_011545045.1:c.5746G>C | XP_011543347.1:p.Val1916Leu | |
| XM_011545046.1:c.5719G>C | XP_011543348.1:p.Val1907Leu | |
| XM_011545047.1:c.5656G>C | XP_011543349.1:p.Val1886Leu | |
| XM_011545048.1:c.5527G>C | XP_011543350.1:p.Val1843Leu | |
| XM_011545049.1:c.5515G>C | XP_011543351.1:p.Val1839Leu | |
| XM_011545050.1:c.5488G>C | XP_011543352.1:p.Val1830Leu | |
| XM_011545051.1:c.5752G>C | XP_011543353.1:p.Val1918Leu | |
| XR_949938.1:n.6072G>C | ||
| XR_949941.1:n.6072G>C | ||
| XM_011545044.2:c.5752G>C | XP_011543346.1:p.Val1918Leu | |
| XM_011545046.2:c.5842G>C | XP_011543348.2:p.Val1948Leu | |
| XM_011545050.2:c.5488G>C | XP_011543352.1:p.Val1830Leu | |
| XM_017017778.1:c.5836G>C | XP_016873267.1:p.Val1946Leu | |
| XM_017017779.1:c.5833G>C | XP_016873268.1:p.Val1945Leu | |
| XM_017017780.1:c.5842G>C | XP_016873269.1:p.Val1948Leu | |
| XM_017017781.1:c.5746G>C | XP_016873270.1:p.Val1916Leu | |
| XM_017017782.1:c.5728G>C | XP_016873271.1:p.Val1910Leu | |
| XM_017017783.1:c.5725G>C | XP_016873272.1:p.Val1909Leu | |
| XM_017017784.1:c.5725G>C | XP_016873273.1:p.Val1909Leu | |
| XM_017017785.1:c.5605G>C | XP_016873274.1:p.Val1869Leu | |
| XM_017017786.1:c.5842G>C | XP_016873275.1:p.Val1948Leu | |
| XM_017017788.1:c.5728G>C | XP_016873277.1:p.Val1910Leu | |
| XR_001747885.1:n.5857G>C | ||
| XR_001747886.1:n.5772G>C | ||
| XR_001747887.1:n.5843G>C | ||
| NM_000260.4:c.5752G>C MANE Select | NP_000251.3:p.Val1918Leu | |
| NM_001127180.2:c.5638G>C | NP_001120652.1:p.Val1880Leu | |
| NM_001369365.1:c.5605G>C | NP_001356294.1:p.Val1869Leu |