Linked Data
ClinVar Variation Id:
3349
ClinVar RCV Id:
RCV000003513
dbSNP Id:
rs121434253
ExAC:
2:31754484 C / A
gnomAD v2:
2-31754484-C-A
gnomAD v4:
2-31529414-C-A
PubMed:
PMID:10999800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529414C>A , CM000664.2:g.31529414C>A | GRCh38 |
| NC_000002.11:g.31754484C>A , CM000664.1:g.31754484C>A | GRCh37 |
| NC_000002.10:g.31607988C>A | NCBI36 |
| NG_008365.1:g.56558G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.591G>T MANE Select | ENSP00000477587.1:p.Glu197Asp | |
| ENST00000622030.1:c.591G>T | ENSP00000477587.1:p.Glu197Asp | |
| NM_000348.3:c.591G>T | NP_000339.2:p.Glu197Asp | |
| XM_011533069.1:c.369G>T | XP_011531371.1:p.Glu123Asp | |
| XM_011533070.1:c.336G>T | XP_011531372.1:p.Glu112Asp | |
| XM_011533071.1:c.336G>T | XP_011531373.1:p.Glu112Asp | |
| XM_011533072.1:c.336G>T | XP_011531374.1:p.Glu112Asp | |
| XM_011533069.2:c.369G>T | XP_011531371.1:p.Glu123Asp | |
| XM_011533072.2:c.336G>T | XP_011531374.1:p.Glu112Asp | |
| NM_000348.4:c.591G>T MANE Select | NP_000339.2:p.Glu197Asp |