Linked Data
ClinVar Variation Id:
5214
ClinVar RCV Id:
RCV000005524
dbSNP Id:
rs28937876
PubMed:
PMID:12080485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41158991C>A , CM000668.2:g.41158991C>A | GRCh38 |
| NC_000006.11:g.41126729C>A , CM000668.1:g.41126729C>A | GRCh37 |
| NC_000006.10:g.41234707C>A | NCBI36 |
| NG_011561.1:g.9194G>T , LRG_631:g.9194G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.558G>T MANE Select | ENSP00000362205.3:p.Lys186Asn | |
| ENST00000338469.3:c.483-211G>T | ENSP00000342651.4:n.483-211G>T | |
| ENST00000373113.7:c.558G>T | ENSP00000362205.3:p.Lys186Asn | |
| ENST00000373122.8:c.598G>T | ENSP00000362214.4:p.Asp200Tyr | |
| NM_001271821.1:c.483-211G>T | NP_001258750.1:n.483-211G>T | |
| NM_018965.3:c.558G>T , LRG_631t1:c.558G>T | NP_061838.1:p.Lys186Asn | |
| XM_006715116.2:c.297G>T | XP_006715179.1:p.Lys99Asn | |
| XR_926795.1:n.222+3428C>A | ||
| XR_926796.1:n.214+3428C>A | ||
| XR_926797.1:n.188+3428C>A | ||
| XR_926795.2:n.517+3428C>A | ||
| XR_926797.2:n.232+3428C>A | ||
| NM_001271821.2:c.483-211G>T | NP_001258750.1:n.483-211G>T | |
| NM_018965.4:c.558G>T MANE Select | NP_061838.1:p.Lys186Asn |