Linked Data
ClinVar Variation Id:
492905
ClinVar RCV Id:
RCV000582995
dbSNP Id:
rs756853742
ExAC:
2:31754477 C / T
gnomAD v2:
2-31754477-C-T
gnomAD v4:
2-31529407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529407C>T , CM000664.2:g.31529407C>T | GRCh38 |
| NC_000002.11:g.31754477C>T , CM000664.1:g.31754477C>T | GRCh37 |
| NC_000002.10:g.31607981C>T | NCBI36 |
| NG_008365.1:g.56565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.598G>A MANE Select | ENSP00000477587.1:p.Glu200Lys | |
| ENST00000622030.1:c.598G>A | ENSP00000477587.1:p.Glu200Lys | |
| NM_000348.3:c.598G>A | NP_000339.2:p.Glu200Lys | |
| XM_011533069.1:c.376G>A | XP_011531371.1:p.Glu126Lys | |
| XM_011533070.1:c.343G>A | XP_011531372.1:p.Glu115Lys | |
| XM_011533071.1:c.343G>A | XP_011531373.1:p.Glu115Lys | |
| XM_011533072.1:c.343G>A | XP_011531374.1:p.Glu115Lys | |
| XM_011533069.2:c.376G>A | XP_011531371.1:p.Glu126Lys | |
| XM_011533072.2:c.343G>A | XP_011531374.1:p.Glu115Lys | |
| NM_000348.4:c.598G>A MANE Select | NP_000339.2:p.Glu200Lys |