Linked Data
ClinVar Variation Id:
1044777
ClinVar RCV Id:
RCV001349080
dbSNP Id:
rs1289796183
gnomAD v3:
11-77211222-T-C
gnomAD v4:
11-77211222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211222T>C , CM000673.2:g.77211222T>C | GRCh38 |
| NC_000011.9:g.76922267T>C , CM000673.1:g.76922267T>C | GRCh37 |
| NC_000011.8:g.76599915T>C | NCBI36 |
| NG_009086.1:g.87958T>C | |
| NG_009086.2:g.87977T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6122T>C MANE Select | ENSP00000386331.3:p.Ile2041Thr | |
| ENST00000670577.1:c.3923T>C | ||
| ENST00000409619.6:c.5975T>C | ENSP00000386635.2:p.Ile1992Thr | |
| ENST00000409709.7:c.6122T>C | ENSP00000386331.3:p.Ile2041Thr | |
| ENST00000458169.2:c.3548T>C | ENSP00000417017.2:p.Ile1183Thr | |
| ENST00000458637.6:c.6008T>C | ENSP00000392185.2:p.Ile2003Thr | |
| ENST00000481328.7:n.3658T>C | ||
| ENST00000526863.2:n.25+311T>C | ||
| ENST00000605744.1:n.1589T>C | ||
| NM_000260.3:c.6122T>C | NP_000251.3:p.Ile2041Thr | |
| NM_001127180.1:c.6008T>C | NP_001120652.1:p.Ile2003Thr | |
| XM_005274012.2:c.6005T>C | XP_005274069.1:p.Ile2002Thr | |
| XM_006718558.2:c.6113T>C | XP_006718621.1:p.Ile2038Thr | |
| XM_006718559.2:c.6008T>C | XP_006718622.1:p.Ile2003Thr | |
| XM_006718560.2:c.6005T>C | XP_006718623.1:p.Ile2002Thr | |
| XM_006718561.2:c.6008T>C | XP_006718624.1:p.Ile2003Thr | |
| XM_011545044.1:c.6122T>C | XP_011543346.1:p.Ile2041Thr | |
| XM_011545045.1:c.6116T>C | XP_011543347.1:p.Ile2039Thr | |
| XM_011545046.1:c.6089T>C | XP_011543348.1:p.Ile2030Thr | |
| XM_011545047.1:c.6026T>C | XP_011543349.1:p.Ile2009Thr | |
| XM_011545048.1:c.5897T>C | XP_011543350.1:p.Ile1966Thr | |
| XM_011545049.1:c.5885T>C | XP_011543351.1:p.Ile1962Thr | |
| XM_011545050.1:c.5858T>C | XP_011543352.1:p.Ile1953Thr | |
| XM_011545051.1:c.6122T>C | XP_011543353.1:p.Ile2041Thr | |
| XR_949938.1:n.6442T>C | ||
| XR_949941.1:n.6416T>C | ||
| XM_011545044.2:c.6122T>C | XP_011543346.1:p.Ile2041Thr | |
| XM_011545046.2:c.6212T>C | XP_011543348.2:p.Ile2071Thr | |
| XM_011545050.2:c.5858T>C | XP_011543352.1:p.Ile1953Thr | |
| XM_017017778.1:c.6206T>C | XP_016873267.1:p.Ile2069Thr | |
| XM_017017779.1:c.6203T>C | XP_016873268.1:p.Ile2068Thr | |
| XM_017017780.1:c.6212T>C | XP_016873269.1:p.Ile2071Thr | |
| XM_017017781.1:c.6116T>C | XP_016873270.1:p.Ile2039Thr | |
| XM_017017782.1:c.6098T>C | XP_016873271.1:p.Ile2033Thr | |
| XM_017017783.1:c.6095T>C | XP_016873272.1:p.Ile2032Thr | |
| XM_017017784.1:c.6095T>C | XP_016873273.1:p.Ile2032Thr | |
| XM_017017785.1:c.5975T>C | XP_016873274.1:p.Ile1992Thr | |
| XM_017017786.1:c.6212T>C | XP_016873275.1:p.Ile2071Thr | |
| XM_017017788.1:c.6098T>C | XP_016873277.1:p.Ile2033Thr | |
| XR_001747885.1:n.6201T>C | ||
| XR_001747886.1:n.6142T>C | ||
| XR_001747887.1:n.6187T>C | ||
| NM_000260.4:c.6122T>C MANE Select | NP_000251.3:p.Ile2041Thr | |
| NM_001127180.2:c.6008T>C | NP_001120652.1:p.Ile2003Thr | |
| NM_001369365.1:c.5975T>C | NP_001356294.1:p.Ile1992Thr |