Linked Data
ClinVar Variation Id:
316363
ClinVar RCV Id:
RCV000276241
RCV000311417
RCV000333625
RCV000353238
RCV000363876
RCV000368473
RCV000400012
dbSNP Id:
rs886051244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415576G>A , CM000677.2:g.48415576G>A | GRCh38 |
| NC_000015.9:g.48707773G>A , CM000677.1:g.48707773G>A | GRCh37 |
| NC_000015.8:g.46495065G>A | NCBI36 |
| NG_008805.2:g.235213C>T , LRG_778:g.235213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*819C>T | ENSP00000453958.2:n.*819C>T | |
| ENST00000674301.2:c.*1524C>T | ENSP00000501333.2:n.*1524C>T | |
| ENST00000682158.1:n.1392C>T | ||
| ENST00000682170.1:n.2192C>T | ||
| ENST00000682767.1:n.1308C>T | ||
| ENST00000316623.10:c.8011C>T MANE Select | ENSP00000325527.5:p.Leu2671= | |
| ENST00000674301.1:c.3177C>T | ENSP00000501333.1:n.3177C>T | |
| ENST00000316623.9:c.8011C>T | ENSP00000325527.5:p.Leu2671= | |
| ENST00000559133.5:c.3380C>T | ||
| ENST00000561429.1:n.266C>T | ||
| NM_000138.4:c.8011C>T , LRG_778t1:c.8011C>T | NP_000129.3:p.Leu2671= | |
| NM_000138.5:c.8011C>T MANE Select | NP_000129.3:p.Leu2671= |