Linked Data
ClinVar Variation Id:
188755
ClinVar RCV Id:
RCV000169069
dbSNP Id:
rs771712041
ExAC:
15:80464490 G / A
gnomAD v2:
15-80464490-G-A
gnomAD v4:
15-80172148-G-A
PubMed:
PMID:8557261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80172148G>A , CM000677.2:g.80172148G>A | GRCh38 |
| NC_000015.9:g.80464490G>A , CM000677.1:g.80464490G>A | GRCh37 |
| NC_000015.8:g.78251545G>A | NCBI36 |
| NG_012833.1:g.24150G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682012.1:n.796-866G>A | ||
| ENST00000561421.6:c.607-1G>A MANE Select | ENSP00000453347.2:n.607-1G>A | |
| ENST00000646551.1:n.2234-14G>A | ||
| ENST00000261755.9:c.607-1G>A | ENSP00000261755.5:n.607-1G>A | |
| ENST00000407106.5:c.607-1G>A | ENSP00000385080.1:n.607-1G>A | |
| ENST00000539156.5:c.397-1G>A | ENSP00000454271.1:n.397-1G>A | |
| ENST00000558627.1:n.535-1G>A | ||
| ENST00000561421.5:c.607-1G>A | ENSP00000453347.1:n.607-1G>A | |
| NM_000137.2:c.607-1G>A | NP_000128.1:n.607-1G>A | |
| XM_024449872.1:c.607-1G>A | XP_024305640.1:n.607-1G>A | |
| NM_000137.4:c.607-1G>A MANE Select | NP_000128.1:n.607-1G>A | |
| NM_001374377.1:c.607-1G>A | NP_001361306.1:n.607-1G>A | |
| NM_001374380.1:c.607-1G>A | NP_001361309.1:n.607-1G>A |