Linked Data
ClinVar Variation Id:
97140
ClinVar RCV Id:
RCV000083371
dbSNP Id:
rs72554333
PubMed:
PMID:11026529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369819G>T , CM000685.2:g.38369819G>T | GRCh38 |
| NC_000023.10:g.38229072G>T , CM000685.1:g.38229072G>T | GRCh37 |
| NC_000023.9:g.38114016G>T | NCBI36 |
| NG_008471.1:g.22337G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.240G>T MANE Select | ENSP00000039007.4:p.Lys80Asn | |
| ENST00000643344.1:c.240G>T | ENSP00000496606.1:p.Lys80Asn | |
| ENST00000039007.4:c.240G>T | ENSP00000039007.4:p.Lys80Asn | |
| ENST00000465127.1:c.172-296302G>T | ENSP00000417050.1:n.172-296302G>T | |
| ENST00000488812.1:n.332G>T | ||
| NM_000531.5:c.240G>T | NP_000522.3:p.Lys80Asn | |
| XM_017029556.1:c.240G>T | XP_016885045.1:p.Lys80Asn | |
| NM_000531.6:c.240G>T MANE Select | NP_000522.3:p.Lys80Asn |