Linked Data
ClinVar Variation Id:
884619
ClinVar RCV Id:
RCV001115769
RCV001115771
RCV001115768
RCV001115770
RCV001115766
RCV001115767
RCV001120689
dbSNP Id:
rs372254135
gnomAD v2:
15-48701142-C-T
gnomAD v3:
15-48408945-C-T
gnomAD v4:
15-48408945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408945C>T , CM000677.2:g.48408945C>T | GRCh38 |
| NC_000015.9:g.48701142C>T , CM000677.1:g.48701142C>T | GRCh37 |
| NC_000015.8:g.46488434C>T | NCBI36 |
| NG_008805.2:g.241844G>A , LRG_778:g.241844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4842G>A | ||
| ENST00000682767.1:n.3958G>A | ||
| ENST00000316623.10:c.*2045G>A MANE Select | ENSP00000325527.5:n.*2045G>A | |
| ENST00000316623.9:c.*2045G>A | ENSP00000325527.5:n.*2045G>A | |
| NM_000138.4:c.*2045G>A , LRG_778t1:c.*2045G>A | NP_000129.3:n.*2045G>A | |
| NM_000138.5:c.*2045G>A MANE Select | NP_000129.3:n.*2045G>A |