Linked Data
ClinVar Variation Id:
1731722
ClinVar RCV Id:
RCV002337501
dbSNP Id:
rs369218661
ExAC:
7:27135186 C / T
gnomAD v2:
7-27135186-C-T
gnomAD v3:
7-27095567-C-T
gnomAD v4:
7-27095567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095567C>T , CM000669.2:g.27095567C>T | GRCh38 |
| NC_000007.13:g.27135186C>T , CM000669.1:g.27135186C>T | GRCh37 |
| NC_000007.12:g.27101711C>T | NCBI36 |
| NG_011813.1:g.5440G>A | |
| NG_033087.1:g.4474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.346G>A MANE Select | ENSP00000494260.2:p.Glu116Lys | |
| ENST00000343060.4:c.346G>A | ENSP00000343246.4:p.Glu116Lys | |
| ENST00000355633.5:c.346G>A | ENSP00000347851.5:p.Glu116Lys | |
| NM_005522.4:c.346G>A | NP_005513.1:p.Glu116Lys | |
| NM_153620.2:c.346G>A | NP_705873.2:p.Glu116Lys | |
| NM_005522.5:c.346G>A MANE Select | NP_005513.2:p.Glu116Lys | |
| NM_153620.3:c.346G>A | NP_705873.3:p.Glu116Lys |