Linked Data
ClinVar Variation Id:
208486
ClinVar RCV Id:
RCV000190499
dbSNP Id:
rs771415085
ExAC:
2:189899832 G / T
gnomAD v2:
2-189899832-G-T
gnomAD v4:
2-189035106-G-T
PubMed:
PMID:20301422
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035106G>T , CM000664.2:g.189035106G>T | GRCh38 |
| NC_000002.11:g.189899832G>T , CM000664.1:g.189899832G>T | GRCh37 |
| NC_000002.10:g.189608077G>T | NCBI36 |
| NG_011799.1:g.149774C>A | |
| NG_011799.2:g.149774C>A | |
| NG_011799.3:g.195196C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.4163C>A MANE Select | ENSP00000364000.3:p.Thr1388Asn | |
| ENST00000374866.7:c.4163C>A | ENSP00000364000.3:p.Thr1388Asn | |
| ENST00000618828.1:c.3002C>A | ENSP00000482184.1:p.Thr1001Asn | |
| NM_000393.3:c.4163C>A | NP_000384.2:p.Thr1388Asn | |
| XM_011510573.1:c.4025C>A | XP_011508875.1:p.Thr1342Asn | |
| NM_000393.4:c.4163C>A | NP_000384.2:p.Thr1388Asn | |
| XM_011510573.3:c.4025C>A | XP_011508875.1:p.Thr1342Asn | |
| NM_000393.5:c.4163C>A MANE Select | NP_000384.2:p.Thr1388Asn |