Linked Data
ClinVar Variation Id:
281682
ClinVar RCV Id:
RCV000346591
RCV000776203
RCV000781381
RCV001121216
RCV001121218
RCV001121220
RCV001121221
RCV001079329
RCV001121217
RCV001121219
dbSNP Id:
rs141925790
ExAC:
15:48756163 G / A
gnomAD v2:
15-48756163-G-A
gnomAD v3:
15-48463966-G-A
gnomAD v4:
15-48463966-G-A
PubMed:
PMID:26787436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463966G>A , CM000677.2:g.48463966G>A | GRCh38 |
| NC_000015.9:g.48756163G>A , CM000677.1:g.48756163G>A | GRCh37 |
| NC_000015.8:g.46543455G>A | NCBI36 |
| NG_008805.2:g.186823C>T , LRG_778:g.186823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4998C>T | ENSP00000453958.2:p.Thr1666= | |
| ENST00000674301.2:c.4998C>T | ENSP00000501333.2:p.Thr1666= | |
| ENST00000684448.1:n.3672C>T | ||
| ENST00000316623.10:c.4998C>T MANE Select | ENSP00000325527.5:p.Thr1666= | |
| ENST00000316623.9:c.4998C>T | ENSP00000325527.5:p.Thr1666= | |
| ENST00000537463.6:c.*761C>T | ENSP00000440294.2:n.*761C>T | |
| ENST00000559133.5:c.305C>T | ||
| NM_000138.4:c.4998C>T , LRG_778t1:c.4998C>T | NP_000129.3:p.Thr1666= | |
| NM_000138.5:c.4998C>T MANE Select | NP_000129.3:p.Thr1666= |