Linked Data
ClinVar Variation Id:
354157
dbSNP Id:
rs114017128
ExAC:
5:76649216 T / C
gnomAD v2:
5-76649216-T-C
gnomAD v3:
5-77353391-T-C
gnomAD v4:
5-77353391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77353391T>C , CM000667.2:g.77353391T>C | GRCh38 |
| NC_000005.9:g.76649216T>C , CM000667.1:g.76649216T>C | GRCh37 |
| NC_000005.8:g.76684972T>C | NCBI36 |
| NG_023364.1:g.147511T>C | |
| NG_023364.2:g.178140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.1152T>C MANE Select | ENSP00000264917.6:p.Thr384= | |
| ENST00000646262.1:c.780T>C | ENSP00000493971.1:p.Thr260= | |
| ENST00000264917.9:c.1152T>C | ENSP00000264917.5:p.Thr384= | |
| ENST00000333194.8:c.1152T>C | ENSP00000331336.4:p.Thr384= | |
| ENST00000340978.7:c.1011T>C | ENSP00000345446.3:p.Thr337= | |
| ENST00000342343.8:c.1092T>C | ENSP00000345646.4:p.Thr364= | |
| ENST00000346042.7:c.876+8460T>C | ENSP00000330428.3:n.876+8460T>C | |
| NM_001029851.2:c.876+8460T>C | NP_001025022.1:n.876+8460T>C | |
| NM_001029852.2:c.1152T>C | NP_001025023.1:p.Thr384= | |
| NM_001029853.2:c.1092T>C | NP_001025024.1:p.Thr364= | |
| NM_001029854.2:c.1011T>C | NP_001025025.1:p.Thr337= | |
| NM_003719.3:c.1152T>C | NP_003710.1:p.Thr384= | |
| XM_005248621.3:c.1149T>C | XP_005248678.1:p.Thr383= | |
| XM_005248623.3:c.849T>C | XP_005248680.1:p.Thr283= | |
| XM_005248624.3:c.846T>C | XP_005248681.1:p.Thr282= | |
| XM_006714725.2:c.1215T>C | XP_006714788.1:p.Thr405= | |
| XM_006714726.2:c.1212T>C | XP_006714789.1:p.Thr404= | |
| XM_011543699.1:c.1215T>C | XP_011542001.1:p.Thr405= | |
| XM_011543700.1:c.939+8460T>C | XP_011542002.1:n.939+8460T>C | |
| XM_011543701.1:c.912T>C | XP_011542003.1:p.Thr304= | |
| XM_011543702.1:c.819T>C | XP_011542004.1:p.Thr273= | |
| XM_011543703.1:c.837T>C | XP_011542005.1:p.Thr279= | |
| XM_011543704.1:c.438T>C | XP_011542006.1:p.Thr146= | |
| NM_001349748.1:c.1149T>C | NP_001336677.1:p.Thr383= | |
| NM_001349749.1:c.1215T>C | NP_001336678.1:p.Thr405= | |
| NM_001349750.1:c.912T>C | NP_001336679.1:p.Thr304= | |
| NM_001349751.1:c.1149T>C | NP_001336680.1:p.Thr383= | |
| NM_001349752.1:c.846T>C | NP_001336681.1:p.Thr282= | |
| NM_001349753.1:c.780T>C | NP_001336682.1:p.Thr260= | |
| XM_005248623.4:c.849T>C | XP_005248680.1:p.Thr283= | |
| XM_006714726.3:c.1212T>C | XP_006714789.1:p.Thr404= | |
| XM_011543699.3:c.1215T>C | XP_011542001.1:p.Thr405= | |
| XM_011543700.3:c.939+8460T>C | XP_011542002.1:n.939+8460T>C | |
| XM_011543704.2:c.438T>C | XP_011542006.1:p.Thr146= | |
| XM_017010005.2:c.873+8460T>C | XP_016865494.1:n.873+8460T>C | |
| XM_017010007.2:c.849T>C | XP_016865496.1:p.Thr283= | |
| XM_017010008.2:c.573+8460T>C | XP_016865497.1:n.573+8460T>C | |
| XM_024446253.1:c.780T>C | XP_024302021.1:p.Thr260= | |
| XM_024446254.1:c.504+8460T>C | XP_024302022.1:n.504+8460T>C | |
| NM_001029851.4:c.876+8460T>C | NP_001025022.1:n.876+8460T>C | |
| NM_001029852.4:c.1152T>C | NP_001025023.1:p.Thr384= | |
| NM_001029853.4:c.1092T>C | NP_001025024.1:p.Thr364= | |
| NM_001029854.4:c.1011T>C | NP_001025025.1:p.Thr337= | |
| NM_001349748.3:c.1149T>C | NP_001336677.1:p.Thr383= | |
| NM_001349749.3:c.1215T>C | NP_001336678.1:p.Thr405= | |
| NM_001349750.3:c.912T>C | NP_001336679.1:p.Thr304= | |
| NM_001349751.3:c.1149T>C | NP_001336680.1:p.Thr383= | |
| NM_001349752.3:c.846T>C | NP_001336681.1:p.Thr282= | |
| NM_001349753.2:c.780T>C | NP_001336682.1:p.Thr260= | |
| NM_001376062.1:c.849T>C | NP_001362991.1:p.Thr283= | |
| NM_001376063.1:c.1143T>C | NP_001362992.1:p.Thr381= | |
| NM_001376064.1:c.1017+3832T>C | NP_001362993.1:n.1017+3832T>C | |
| NM_001376065.1:c.873+8460T>C | NP_001362994.1:n.873+8460T>C | |
| NM_001376066.1:c.789T>C | NP_001362995.1:p.Thr263= | |
| NM_001376067.1:c.780T>C | NP_001362996.1:p.Thr260= | |
| NM_001376068.1:c.780T>C | NP_001362997.1:p.Thr260= | |
| NM_001376069.1:c.768T>C | NP_001362998.1:p.Thr256= | |
| NM_001376070.1:c.708T>C | NP_001362999.1:p.Thr236= | |
| NM_001376071.1:c.705T>C | NP_001363000.1:p.Thr235= | |
| NM_001376072.1:c.849T>C | NP_001363001.1:p.Thr283= | |
| NM_001376073.1:c.573+8460T>C | NP_001363002.1:n.573+8460T>C | |
| NM_001376074.1:c.513+8460T>C | NP_001363003.1:n.513+8460T>C | |
| NM_001376075.1:c.504+8460T>C | NP_001363004.1:n.504+8460T>C | |
| NM_003719.5:c.1152T>C MANE Select | NP_003710.1:p.Thr384= |