Linked Data
ClinVar Variation Id:
388482
ClinVar RCV Id:
RCV000443368
RCV000769632
RCV000528819
RCV002510891
RCV004539874
RCV002279201
RCV004000495
dbSNP Id:
rs542953863
ExAC:
15:48734027 G / A
gnomAD v2:
15-48734027-G-A
gnomAD v3:
15-48441830-G-A
gnomAD v4:
15-48441830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48441830G>A , CM000677.2:g.48441830G>A | GRCh38 |
| NC_000015.9:g.48734027G>A , CM000677.1:g.48734027G>A | GRCh37 |
| NC_000015.8:g.46521319G>A | NCBI36 |
| NG_008805.2:g.208959C>T , LRG_778:g.208959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6054C>T | ENSP00000453958.2:p.Val2018= | |
| ENST00000674301.2:c.6054C>T | ENSP00000501333.2:p.Val2018= | |
| ENST00000316623.10:c.6054C>T MANE Select | ENSP00000325527.5:p.Val2018= | |
| ENST00000674301.1:c.1053C>T | ENSP00000501333.1:p.Val351= | |
| ENST00000316623.9:c.6054C>T | ENSP00000325527.5:p.Val2018= | |
| ENST00000537463.6:c.*1817C>T | ENSP00000440294.2:n.*1817C>T | |
| ENST00000559133.5:c.1361C>T | ||
| ENST00000560820.1:n.174C>T | ||
| NM_000138.4:c.6054C>T , LRG_778t1:c.6054C>T | NP_000129.3:p.Val2018= | |
| NM_000138.5:c.6054C>T MANE Select | NP_000129.3:p.Val2018= |