Linked Data
ClinVar Variation Id:
316324
ClinVar RCV Id:
RCV000266293
RCV000271046
RCV000278958
RCV000328431
RCV000364319
RCV000377181
RCV000380579
dbSNP Id:
rs770825180
gnomAD v2:
15-48701481-G-T
gnomAD v3:
15-48409284-G-T
gnomAD v4:
15-48409284-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409284G>T , CM000677.2:g.48409284G>T | GRCh38 |
| NC_000015.9:g.48701481G>T , CM000677.1:g.48701481G>T | GRCh37 |
| NC_000015.8:g.46488773G>T | NCBI36 |
| NG_008805.2:g.241505C>A , LRG_778:g.241505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4503C>A | ||
| ENST00000682767.1:n.3619C>A | ||
| ENST00000316623.10:c.*1706C>A MANE Select | ENSP00000325527.5:n.*1706C>A | |
| ENST00000316623.9:c.*1706C>A | ENSP00000325527.5:n.*1706C>A | |
| NM_000138.4:c.*1706C>A , LRG_778t1:c.*1706C>A | NP_000129.3:n.*1706C>A | |
| NM_000138.5:c.*1706C>A MANE Select | NP_000129.3:n.*1706C>A |