Linked Data
ClinVar Variation Id:
419958
dbSNP Id:
rs780085174
ExAC:
5:52397927 C / T
gnomAD v2:
5-52397927-C-T
gnomAD v3:
5-53102097-C-T
gnomAD v4:
5-53102097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53102097C>T , CM000667.2:g.53102097C>T | GRCh38 |
| NC_000005.9:g.52397927C>T , CM000667.1:g.52397927C>T | GRCh37 |
| NC_000005.8:g.52433684C>T | NCBI36 |
| NG_008435.2:g.12672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.226G>A MANE Select | ENSP00000380157.3:p.Gly76Arg | |
| ENST00000450852.8:c.*146G>A MANE Plus Clinical | ENSP00000411022.3:n.*146G>A | |
| ENST00000361377.8:c.*146G>A | ENSP00000355160.4:n.*146G>A | |
| ENST00000396954.7:c.226G>A | ENSP00000380157.3:p.Gly76Arg | |
| ENST00000450852.7:c.*146G>A | ENSP00000411022.3:n.*146G>A | |
| ENST00000502402.5:n.1149G>A | ||
| ENST00000508922.5:c.*146G>A | ENSP00000426274.1:n.*146G>A | |
| ENST00000510818.6:c.*146G>A | ENSP00000424267.2:n.*146G>A | |
| ENST00000514553.2:n.411G>A | ||
| ENST00000527216.5:c.*146G>A | ENSP00000435326.1:n.*146G>A | |
| ENST00000582677.5:c.*19-1563G>A | ENSP00000462870.1:n.*19-1563G>A | |
| ENST00000584946.5:c.*19-588G>A | ENSP00000464663.1:n.*19-588G>A | |
| NM_004531.4:c.226G>A | NP_004522.1:p.Gly76Arg | |
| NM_176806.3:c.*146G>A | NP_789776.1:n.*146G>A | |
| NM_004531.5:c.226G>A MANE Select | NP_004522.1:p.Gly76Arg | |
| NM_176806.4:c.*146G>A MANE Plus Clinical | NP_789776.1:n.*146G>A |