Linked Data
ClinVar Variation Id:
6109
ClinVar RCV Id:
RCV000006483
dbSNP Id:
rs121908605
gnomAD v4:
5-53098667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53098667C>T , CM000667.2:g.53098667C>T | GRCh38 |
| NC_000005.9:g.52394497C>T , CM000667.1:g.52394497C>T | GRCh37 |
| NC_000005.8:g.52430254C>T | NCBI36 |
| NG_008435.2:g.16102G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396954.8:c.502G>A MANE Select | ENSP00000380157.3:p.Glu168Lys | |
| ENST00000450852.8:c.*422G>A MANE Plus Clinical | ENSP00000411022.3:n.*422G>A | |
| ENST00000361377.8:c.*271G>A | ENSP00000355160.4:n.*271G>A | |
| ENST00000396954.7:c.502G>A | ENSP00000380157.3:p.Glu168Lys | |
| ENST00000450852.7:c.*422G>A | ENSP00000411022.3:n.*422G>A | |
| ENST00000502402.5:n.2249G>A | ||
| ENST00000508922.5:c.*342G>A | ENSP00000426274.1:n.*342G>A | |
| ENST00000510818.6:c.*375G>A | ENSP00000424267.2:n.*375G>A | |
| ENST00000582677.5:c.*143G>A | ENSP00000462870.1:n.*143G>A | |
| ENST00000584946.5:c.*294G>A | ENSP00000464663.1:n.*294G>A | |
| NM_004531.4:c.502G>A | NP_004522.1:p.Glu168Lys | |
| NM_176806.3:c.*422G>A | NP_789776.1:n.*422G>A | |
| NM_004531.5:c.502G>A MANE Select | NP_004522.1:p.Glu168Lys | |
| NM_176806.4:c.*422G>A MANE Plus Clinical | NP_789776.1:n.*422G>A |