Linked Data
ClinVar Variation Id:
512385
dbSNP Id:
rs200394848
ExAC:
5:125891699 A / G
gnomAD v2:
5-125891699-A-G
gnomAD v3:
5-126556007-A-G
gnomAD v4:
5-126556007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126556007A>G , CM000667.2:g.126556007A>G | GRCh38 |
| NC_000005.9:g.125891699A>G , CM000667.1:g.125891699A>G | GRCh37 |
| NC_000005.8:g.125919598A>G | NCBI36 |
| NG_008600.2:g.44384T>C | |
| NG_008600.3:g.44384T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1017T>C MANE Select | ENSP00000387123.3:p.His339= | |
| ENST00000458249.6:c.*926T>C | ENSP00000403929.1:n.*926T>C | |
| ENST00000497231.7:n.1444T>C | ||
| ENST00000503281.6:c.606T>C | ||
| ENST00000509459.6:c.526T>C | ||
| ENST00000635851.1:c.1015T>C | ||
| ENST00000636062.1:n.912T>C | ||
| ENST00000636225.1:c.*961T>C | ENSP00000490797.1:n.*961T>C | |
| ENST00000636286.1:n.735T>C | ||
| ENST00000636482.1:n.504T>C | ||
| ENST00000636743.1:c.897T>C | ENSP00000489725.1:p.His299= | |
| ENST00000636808.1:c.*826T>C | ENSP00000490833.1:n.*826T>C | |
| ENST00000636872.1:c.1177T>C | ENSP00000490919.1:n.1177T>C | |
| ENST00000636879.1:c.1062T>C | ENSP00000490811.1:p.His354= | |
| ENST00000636886.1:c.816T>C | ENSP00000490371.1:p.His272= | |
| ENST00000637206.1:c.914-1614T>C | ENSP00000489895.1:n.914-1614T>C | |
| ENST00000637272.1:c.1008T>C | ENSP00000489686.1:p.His336= | |
| ENST00000637292.1:c.590T>C | ||
| ENST00000637782.1:c.1017T>C | ENSP00000490024.1:p.His339= | |
| ENST00000637964.1:c.963T>C | ENSP00000490291.1:p.His321= | |
| ENST00000638008.1:c.*861T>C | ENSP00000490400.1:n.*861T>C | |
| ENST00000409134.7:c.1017T>C | ENSP00000387123.3:p.His339= | |
| ENST00000447989.6:c.1089+3233T>C | ENSP00000414132.2:n.1089+3233T>C | |
| ENST00000497231.6:n.1227T>C | ||
| ENST00000503281.5:c.606T>C | ||
| ENST00000509459.5:c.526T>C | ||
| ENST00000553117.5:c.1008+3233T>C | ENSP00000448593.1:n.1008+3233T>C | |
| NM_001182.4:c.1017T>C | NP_001173.2:p.His339= | |
| NM_001201377.1:c.933T>C | NP_001188306.1:p.His311= | |
| NM_001202404.1:c.1089+3233T>C | NP_001189333.1:n.1089+3233T>C | |
| XM_011543417.1:c.612T>C | XP_011541719.1:p.His204= | |
| XM_011543417.2:c.612T>C | XP_011541719.1:p.His204= | |
| NM_001182.5:c.1017T>C MANE Select | NP_001173.2:p.His339= | |
| NM_001201377.2:c.933T>C | NP_001188306.1:p.His311= | |
| NM_001202404.2:c.1008+3233T>C | NP_001189333.2:n.1008+3233T>C |