Linked Data
ClinVar Variation Id:
306198
dbSNP Id:
rs886048682
gnomAD v2:
11-76918411-A-G
gnomAD v3:
11-77207366-A-G
gnomAD v4:
11-77207366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77207366A>G , CM000673.2:g.77207366A>G | GRCh38 |
| NC_000011.9:g.76918411A>G , CM000673.1:g.76918411A>G | GRCh37 |
| NC_000011.8:g.76596059A>G | NCBI36 |
| NG_009086.1:g.84102A>G | |
| NG_009086.2:g.84121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5820A>G MANE Select | ENSP00000386331.3:p.Ser1940= | |
| ENST00000670577.1:c.3647A>G | ||
| ENST00000409619.6:c.5673A>G | ENSP00000386635.2:p.Ser1891= | |
| ENST00000409709.7:c.5820A>G | ENSP00000386331.3:p.Ser1940= | |
| ENST00000458169.2:c.3246A>G | ENSP00000417017.2:p.Ser1082= | |
| ENST00000458637.6:c.5706A>G | ENSP00000392185.2:p.Ser1902= | |
| ENST00000481328.7:n.3356A>G | ||
| ENST00000605744.1:n.734A>G | ||
| NM_000260.3:c.5820A>G | NP_000251.3:p.Ser1940= | |
| NM_001127180.1:c.5706A>G | NP_001120652.1:p.Ser1902= | |
| XM_005274012.2:c.5703A>G | XP_005274069.1:p.Ser1901= | |
| XM_006718558.2:c.5811A>G | XP_006718621.1:p.Ser1937= | |
| XM_006718559.2:c.5706A>G | XP_006718622.1:p.Ser1902= | |
| XM_006718560.2:c.5703A>G | XP_006718623.1:p.Ser1901= | |
| XM_006718561.2:c.5706A>G | XP_006718624.1:p.Ser1902= | |
| XM_011545044.1:c.5820A>G | XP_011543346.1:p.Ser1940= | |
| XM_011545045.1:c.5814A>G | XP_011543347.1:p.Ser1938= | |
| XM_011545046.1:c.5787A>G | XP_011543348.1:p.Ser1929= | |
| XM_011545047.1:c.5724A>G | XP_011543349.1:p.Ser1908= | |
| XM_011545048.1:c.5595A>G | XP_011543350.1:p.Ser1865= | |
| XM_011545049.1:c.5583A>G | XP_011543351.1:p.Ser1861= | |
| XM_011545050.1:c.5556A>G | XP_011543352.1:p.Ser1852= | |
| XM_011545051.1:c.5820A>G | XP_011543353.1:p.Ser1940= | |
| XR_949938.1:n.6140A>G | ||
| XR_949941.1:n.6140A>G | ||
| XM_011545044.2:c.5820A>G | XP_011543346.1:p.Ser1940= | |
| XM_011545046.2:c.5910A>G | XP_011543348.2:p.Ser1970= | |
| XM_011545050.2:c.5556A>G | XP_011543352.1:p.Ser1852= | |
| XM_017017778.1:c.5904A>G | XP_016873267.1:p.Ser1968= | |
| XM_017017779.1:c.5901A>G | XP_016873268.1:p.Ser1967= | |
| XM_017017780.1:c.5910A>G | XP_016873269.1:p.Ser1970= | |
| XM_017017781.1:c.5814A>G | XP_016873270.1:p.Ser1938= | |
| XM_017017782.1:c.5796A>G | XP_016873271.1:p.Ser1932= | |
| XM_017017783.1:c.5793A>G | XP_016873272.1:p.Ser1931= | |
| XM_017017784.1:c.5793A>G | XP_016873273.1:p.Ser1931= | |
| XM_017017785.1:c.5673A>G | XP_016873274.1:p.Ser1891= | |
| XM_017017786.1:c.5910A>G | XP_016873275.1:p.Ser1970= | |
| XM_017017788.1:c.5796A>G | XP_016873277.1:p.Ser1932= | |
| XR_001747885.1:n.5925A>G | ||
| XR_001747886.1:n.5840A>G | ||
| XR_001747887.1:n.5911A>G | ||
| NM_000260.4:c.5820A>G MANE Select | NP_000251.3:p.Ser1940= | |
| NM_001127180.2:c.5706A>G | NP_001120652.1:p.Ser1902= | |
| NM_001369365.1:c.5673A>G | NP_001356294.1:p.Ser1891= |