Linked Data
ClinVar Variation Id:
263431
ClinVar RCV Id:
RCV000245150
RCV000269442
RCV000303029
RCV000305833
RCV000360147
RCV000360515
RCV000390288
RCV001086203
RCV000419193
RCV000487841
dbSNP Id:
rs149697299
ExAC:
15:48719912 G / A
gnomAD v2:
15-48719912-G-A
gnomAD v3:
15-48427715-G-A
gnomAD v4:
15-48427715-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427715G>A , CM000677.2:g.48427715G>A | GRCh38 |
| NC_000015.9:g.48719912G>A , CM000677.1:g.48719912G>A | GRCh37 |
| NC_000015.8:g.46507204G>A | NCBI36 |
| NG_008805.2:g.223074C>T , LRG_778:g.223074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7118C>T | ENSP00000453958.2:p.Pro2373Leu | |
| ENST00000674301.2:c.*569C>T | ENSP00000501333.2:n.*569C>T | |
| ENST00000682170.1:n.1237C>T | ||
| ENST00000682767.1:n.353C>T | ||
| ENST00000316623.10:c.7056C>T MANE Select | ENSP00000325527.5:p.Ser2352= | |
| ENST00000674301.1:c.2222C>T | ENSP00000501333.1:n.2222C>T | |
| ENST00000316623.9:c.7056C>T | ENSP00000325527.5:p.Ser2352= | |
| ENST00000559133.5:c.2425C>T | ||
| NM_000138.4:c.7056C>T , LRG_778t1:c.7056C>T | NP_000129.3:p.Ser2352= | |
| NM_000138.5:c.7056C>T MANE Select | NP_000129.3:p.Ser2352= |