Linked Data
ClinVar Variation Id:
316372
ClinVar RCV Id:
RCV000291988
RCV000292177
RCV000304842
RCV000343242
RCV000344528
RCV000349467
RCV000383089
RCV000405016
RCV000840665
RCV003765836
dbSNP Id:
rs776163620
ExAC:
15:48739034 G / C
gnomAD v2:
15-48739034-G-C
gnomAD v3:
15-48446837-G-C
gnomAD v4:
15-48446837-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446837G>C , CM000677.2:g.48446837G>C | GRCh38 |
| NC_000015.9:g.48739034G>C , CM000677.1:g.48739034G>C | GRCh37 |
| NC_000015.8:g.46526326G>C | NCBI36 |
| NG_008805.2:g.203952C>G , LRG_778:g.203952C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5672-15C>G | ENSP00000453958.2:n.5672-15C>G | |
| ENST00000674301.2:c.5672-15C>G | ENSP00000501333.2:n.5672-15C>G | |
| ENST00000684448.1:n.4346-15C>G | ||
| ENST00000316623.10:c.5672-15C>G MANE Select | ENSP00000325527.5:n.5672-15C>G | |
| ENST00000674301.1:c.671-15C>G | ENSP00000501333.1:n.671-15C>G | |
| ENST00000316623.9:c.5672-15C>G | ENSP00000325527.5:n.5672-15C>G | |
| ENST00000537463.6:c.*1435-15C>G | ENSP00000440294.2:n.*1435-15C>G | |
| ENST00000559133.5:c.979-15C>G | ||
| NM_000138.4:c.5672-15C>G , LRG_778t1:c.5672-15C>G | NP_000129.3:n.5672-15C>G | |
| NM_000138.5:c.5672-15C>G MANE Select | NP_000129.3:n.5672-15C>G |