Linked Data
ClinVar Variation Id:
228686
ClinVar RCV Id:
RCV000216732
RCV000300200
RCV000303614
RCV000398027
RCV000400917
RCV002054958
RCV004532755
RCV000276903
RCV000343480
RCV000355096
dbSNP Id:
rs200841830
ExAC:
15:48729599 C / T
gnomAD v2:
15-48729599-C-T
gnomAD v3:
15-48437402-C-T
gnomAD v4:
15-48437402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437402C>T , CM000677.2:g.48437402C>T | GRCh38 |
| NC_000015.9:g.48729599C>T , CM000677.1:g.48729599C>T | GRCh37 |
| NC_000015.8:g.46516891C>T | NCBI36 |
| NG_008805.2:g.213387G>A , LRG_778:g.213387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6314-15G>A | ENSP00000453958.2:n.6314-15G>A | |
| ENST00000674301.2:c.6314-15G>A | ENSP00000501333.2:n.6314-15G>A | |
| ENST00000316623.10:c.6314-15G>A MANE Select | ENSP00000325527.5:n.6314-15G>A | |
| ENST00000674301.1:c.1313-15G>A | ENSP00000501333.1:n.1313-15G>A | |
| ENST00000316623.9:c.6314-15G>A | ENSP00000325527.5:n.6314-15G>A | |
| ENST00000537463.6:c.*2077-15G>A | ENSP00000440294.2:n.*2077-15G>A | |
| ENST00000559133.5:c.1621-15G>A | ||
| NM_000138.4:c.6314-15G>A , LRG_778t1:c.6314-15G>A | NP_000129.3:n.6314-15G>A | |
| NM_000138.5:c.6314-15G>A MANE Select | NP_000129.3:n.6314-15G>A |