Linked Data
ClinVar Variation Id:
204865
ClinVar RCV Id:
RCV003517144
dbSNP Id:
rs796052271
gnomAD v4:
5-126552057-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552057C>A , CM000667.2:g.126552057C>A | GRCh38 |
| NC_000005.9:g.125887749C>A , CM000667.1:g.125887749C>A | GRCh37 |
| NC_000005.8:g.125915648C>A | NCBI36 |
| NG_008600.2:g.48334G>T | |
| NG_008600.3:g.48334G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.1281G>T MANE Select | ENSP00000387123.3:p.Glu427Asp | |
| ENST00000458249.6:c.*1190G>T | ENSP00000403929.1:n.*1190G>T | |
| ENST00000497231.7:n.1708G>T | ||
| ENST00000503281.6:c.870G>T | ||
| ENST00000635851.1:c.1279G>T | ||
| ENST00000636062.1:n.1176G>T | ||
| ENST00000636225.1:c.*1225G>T | ENSP00000490797.1:n.*1225G>T | |
| ENST00000636286.1:n.999G>T | ||
| ENST00000636482.1:n.768G>T | ||
| ENST00000636743.1:c.1161G>T | ENSP00000489725.1:p.Glu387Asp | |
| ENST00000636808.1:c.*1090G>T | ENSP00000490833.1:n.*1090G>T | |
| ENST00000636872.1:c.1441G>T | ENSP00000490919.1:n.1441G>T | |
| ENST00000636879.1:c.1326G>T | ENSP00000490811.1:p.Glu442Asp | |
| ENST00000636886.1:c.1080G>T | ENSP00000490371.1:p.Glu360Asp | |
| ENST00000637206.1:c.1101G>T | ENSP00000489895.1:p.Glu367Asp | |
| ENST00000637272.1:c.1272G>T | ENSP00000489686.1:p.Glu424Asp | |
| ENST00000637292.1:c.774-1764G>T | ||
| ENST00000637782.1:c.1281G>T | ENSP00000490024.1:p.Glu427Asp | |
| ENST00000638008.1:c.*1125G>T | ENSP00000490400.1:n.*1125G>T | |
| ENST00000638010.1:n.1227G>T | ||
| ENST00000409134.7:c.1281G>T | ENSP00000387123.3:p.Glu427Asp | |
| ENST00000447989.6:c.1170G>T | ENSP00000414132.2:p.Glu390Asp | |
| ENST00000476328.1:n.46G>T | ||
| ENST00000497231.6:n.1491G>T | ||
| ENST00000503281.5:c.870G>T | ||
| ENST00000553117.5:c.1089G>T | ENSP00000448593.1:p.Glu363Asp | |
| NM_001182.4:c.1281G>T | NP_001173.2:p.Glu427Asp | |
| NM_001201377.1:c.1197G>T | NP_001188306.1:p.Glu399Asp | |
| NM_001202404.1:c.1170G>T | NP_001189333.1:p.Glu390Asp | |
| XM_011543417.1:c.876G>T | XP_011541719.1:p.Glu292Asp | |
| XM_011543417.2:c.876G>T | XP_011541719.1:p.Glu292Asp | |
| NM_001182.5:c.1281G>T MANE Select | NP_001173.2:p.Glu427Asp | |
| NM_001201377.2:c.1197G>T | NP_001188306.1:p.Glu399Asp | |
| NM_001202404.2:c.1089G>T | NP_001189333.2:p.Glu363Asp |