Linked Data
ClinVar Variation Id:
2394702
ClinVar RCV Id:
RCV002738924
dbSNP Id:
rs762002722
ExAC:
2:233349582 C / T
gnomAD v2:
2-233349582-C-T
gnomAD v3:
2-232484872-C-T
gnomAD v4:
2-232484872-C-T
COSMIC:
COSM3049315
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484872C>T , CM000664.2:g.232484872C>T | GRCh38 |
| NC_000002.11:g.233349582C>T , CM000664.1:g.233349582C>T | GRCh37 |
| NC_000002.10:g.233057826C>T | NCBI36 |
| NG_034065.1:g.7988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.988G>A MANE Select | ENSP00000302051.1:p.Asp330Asn | |
| ENST00000304546.5:c.988G>A | ENSP00000302051.1:p.Asp330Asn | |
| ENST00000409941.1:c.988G>A | ENSP00000386333.1:p.Asp330Asn | |
| ENST00000482346.1:n.1299G>A | ||
| NM_001290787.1:c.988G>A | NP_001277716.1:p.Asp330Asn | |
| NM_004826.3:c.988G>A | NP_004817.2:p.Asp330Asn | |
| NM_004826.4:c.988G>A MANE Select | NP_004817.2:p.Asp330Asn | |
| NM_001290787.2:c.988G>A | NP_001277716.1:p.Asp330Asn |