Linked Data
ClinVar Variation Id:
316313
ClinVar RCV Id:
RCV000275353
RCV000319804
RCV000304791
RCV000330197
RCV000354953
RCV000356041
RCV000403277
RCV003391137
dbSNP Id:
rs575922741
gnomAD v2:
15-48701096-C-T
gnomAD v3:
15-48408899-C-T
gnomAD v4:
15-48408899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408899C>T , CM000677.2:g.48408899C>T | GRCh38 |
| NC_000015.9:g.48701096C>T , CM000677.1:g.48701096C>T | GRCh37 |
| NC_000015.8:g.46488388C>T | NCBI36 |
| NG_008805.2:g.241890G>A , LRG_778:g.241890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4888G>A | ||
| ENST00000682767.1:n.4004G>A | ||
| ENST00000316623.10:c.*2091G>A MANE Select | ENSP00000325527.5:n.*2091G>A | |
| ENST00000316623.9:c.*2091G>A | ENSP00000325527.5:n.*2091G>A | |
| NM_000138.4:c.*2091G>A , LRG_778t1:c.*2091G>A | NP_000129.3:n.*2091G>A | |
| NM_000138.5:c.*2091G>A MANE Select | NP_000129.3:n.*2091G>A |