Linked Data
ClinVar Variation Id:
200074
dbSNP Id:
rs571365493
ExAC:
15:48730117 G / A
gnomAD v2:
15-48730117-G-A
gnomAD v3:
15-48437920-G-A
gnomAD v4:
15-48437920-G-A
PubMed:
PMID:25834947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437920G>A , CM000677.2:g.48437920G>A | GRCh38 |
| NC_000015.9:g.48730117G>A , CM000677.1:g.48730117G>A | GRCh37 |
| NC_000015.8:g.46517409G>A | NCBI36 |
| NG_008805.2:g.212869C>T , LRG_778:g.212869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6164-3C>T | ENSP00000453958.2:n.6164-3C>T | |
| ENST00000674301.2:c.6164-3C>T | ENSP00000501333.2:n.6164-3C>T | |
| ENST00000316623.10:c.6164-3C>T MANE Select | ENSP00000325527.5:n.6164-3C>T | |
| ENST00000674301.1:c.1163-3C>T | ENSP00000501333.1:n.1163-3C>T | |
| ENST00000316623.9:c.6164-3C>T | ENSP00000325527.5:n.6164-3C>T | |
| ENST00000537463.6:c.*1927-3C>T | ENSP00000440294.2:n.*1927-3C>T | |
| ENST00000559133.5:c.1471-3C>T | ||
| ENST00000560820.1:n.284-3C>T | ||
| NM_000138.4:c.6164-3C>T , LRG_778t1:c.6164-3C>T | NP_000129.3:n.6164-3C>T | |
| NM_000138.5:c.6164-3C>T MANE Select | NP_000129.3:n.6164-3C>T |