Linked Data
ClinVar Variation Id:
762
ClinVar RCV Id:
RCV000000798
dbSNP Id:
rs118204045
gnomAD v4:
2-149575775-G-T
PubMed:
PMID:18385497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149575775G>T , CM000664.2:g.149575775G>T | GRCh38 |
| NC_000002.11:g.150432289G>T , CM000664.1:g.150432289G>T | GRCh37 |
| NC_000002.10:g.150140535G>T | NCBI36 |
| NG_009189.1:g.17042C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.545C>A MANE Select | ENSP00000301920.5:p.Thr182Asn | |
| ENST00000303319.9:c.545C>A | ENSP00000301920.5:p.Thr182Asn | |
| ENST00000422782.2:c.545C>A | ENSP00000408331.2:p.Thr182Asn | |
| ENST00000428879.5:c.545C>A | ENSP00000389060.1:p.Thr182Asn | |
| NM_015702.2:c.545C>A | NP_056517.1:p.Thr182Asn | |
| NM_015702.3:c.545C>A MANE Select | NP_056517.1:p.Thr182Asn |