Linked Data
ClinVar Variation Id:
164724
dbSNP Id:
rs377670513
ExAC:
11:76922954 C / T
gnomAD v2:
11-76922954-C-T
gnomAD v3:
11-77211909-C-T
gnomAD v4:
11-77211909-C-T
ERepo:
CA278724/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211909C>T , CM000673.2:g.77211909C>T | GRCh38 |
| NC_000011.9:g.76922954C>T , CM000673.1:g.76922954C>T | GRCh37 |
| NC_000011.8:g.76600602C>T | NCBI36 |
| NG_009086.1:g.88645C>T | |
| NG_009086.2:g.88664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6326C>T MANE Select | ENSP00000386331.3:p.Thr2109Ile | |
| ENST00000670577.1:c.4127C>T | ||
| ENST00000409619.6:c.6179C>T | ENSP00000386635.2:p.Thr2060Ile | |
| ENST00000409709.7:c.6326C>T | ENSP00000386331.3:p.Thr2109Ile | |
| ENST00000458169.2:c.3752C>T | ENSP00000417017.2:p.Thr1251Ile | |
| ENST00000458637.6:c.6212C>T | ENSP00000392185.2:p.Thr2071Ile | |
| ENST00000481328.7:n.3862C>T | ||
| ENST00000526863.2:n.26-636C>T | ||
| ENST00000605744.1:n.1793C>T | ||
| NM_000260.3:c.6326C>T | NP_000251.3:p.Thr2109Ile | |
| NM_001127180.1:c.6212C>T | NP_001120652.1:p.Thr2071Ile | |
| XM_005274012.2:c.6209C>T | XP_005274069.1:p.Thr2070Ile | |
| XM_006718558.2:c.6317C>T | XP_006718621.1:p.Thr2106Ile | |
| XM_006718559.2:c.6212C>T | XP_006718622.1:p.Thr2071Ile | |
| XM_006718560.2:c.6209C>T | XP_006718623.1:p.Thr2070Ile | |
| XM_006718561.2:c.6212C>T | XP_006718624.1:p.Thr2071Ile | |
| XM_011545044.1:c.6326C>T | XP_011543346.1:p.Thr2109Ile | |
| XM_011545045.1:c.6320C>T | XP_011543347.1:p.Thr2107Ile | |
| XM_011545046.1:c.6293C>T | XP_011543348.1:p.Thr2098Ile | |
| XM_011545047.1:c.6230C>T | XP_011543349.1:p.Thr2077Ile | |
| XM_011545048.1:c.6101C>T | XP_011543350.1:p.Thr2034Ile | |
| XM_011545049.1:c.6089C>T | XP_011543351.1:p.Thr2030Ile | |
| XM_011545050.1:c.6062C>T | XP_011543352.1:p.Thr2021Ile | |
| XM_011545051.1:c.6326C>T | XP_011543353.1:p.Thr2109Ile | |
| XR_949938.1:n.6646C>T | ||
| XR_949941.1:n.6620C>T | ||
| XM_011545044.2:c.6326C>T | XP_011543346.1:p.Thr2109Ile | |
| XM_011545046.2:c.6416C>T | XP_011543348.2:p.Thr2139Ile | |
| XM_011545050.2:c.6062C>T | XP_011543352.1:p.Thr2021Ile | |
| XM_017017778.1:c.6410C>T | XP_016873267.1:p.Thr2137Ile | |
| XM_017017779.1:c.6407C>T | XP_016873268.1:p.Thr2136Ile | |
| XM_017017780.1:c.6416C>T | XP_016873269.1:p.Thr2139Ile | |
| XM_017017781.1:c.6320C>T | XP_016873270.1:p.Thr2107Ile | |
| XM_017017782.1:c.6302C>T | XP_016873271.1:p.Thr2101Ile | |
| XM_017017783.1:c.6299C>T | XP_016873272.1:p.Thr2100Ile | |
| XM_017017784.1:c.6299C>T | XP_016873273.1:p.Thr2100Ile | |
| XM_017017785.1:c.6179C>T | XP_016873274.1:p.Thr2060Ile | |
| XM_017017786.1:c.6416C>T | XP_016873275.1:p.Thr2139Ile | |
| XM_017017788.1:c.6302C>T | XP_016873277.1:p.Thr2101Ile | |
| XR_001747885.1:n.6405C>T | ||
| XR_001747887.1:n.6391C>T | ||
| NM_000260.4:c.6326C>T MANE Select | NP_000251.3:p.Thr2109Ile | |
| NM_001127180.2:c.6212C>T | NP_001120652.1:p.Thr2071Ile | |
| NM_001369365.1:c.6179C>T | NP_001356294.1:p.Thr2060Ile |