Linked Data
ClinVar Variation Id:
532526
dbSNP Id:
rs1429621198
gnomAD v2:
2-96919659-C-T
gnomAD v4:
2-96253921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253921C>T , CM000664.2:g.96253921C>T | GRCh38 |
| NC_000002.11:g.96919659C>T , CM000664.1:g.96919659C>T | GRCh37 |
| NC_000002.10:g.96283386C>T | NCBI36 |
| NG_027695.1:g.17093G>A , LRG_528:g.17093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.604G>A MANE Select | ENSP00000258439.3:p.Glu202Lys | |
| ENST00000258439.7:c.604G>A | ENSP00000258439.2:p.Glu202Lys | |
| ENST00000432959.1:c.604G>A | ENSP00000416660.1:p.Glu202Lys | |
| ENST00000435268.1:c.352G>A | ENSP00000411810.1:p.Glu118Lys | |
| NM_001193304.2:c.604G>A | NP_001180233.1:p.Glu202Lys | |
| NM_017849.3:c.604G>A , LRG_528t1:c.604G>A | NP_060319.1:p.Glu202Lys | |
| XM_017004450.1:c.-315G>A | XP_016859939.1:n.-315G>A | |
| XM_017004452.1:c.352G>A | XP_016859941.1:p.Glu118Lys | |
| NM_001193304.3:c.604G>A | NP_001180233.1:p.Glu202Lys | |
| NM_017849.4:c.604G>A MANE Select | NP_060319.1:p.Glu202Lys |