Linked Data
ClinVar Variation Id:
1209768
dbSNP Id:
rs3743074
ExAC:
15:78909480 G / A
gnomAD v2:
15-78909480-G-A
gnomAD v3:
15-78617138-G-A
gnomAD v4:
15-78617138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78617138G>A , CM000677.2:g.78617138G>A | GRCh38 |
| NC_000015.9:g.78909480G>A , CM000677.1:g.78909480G>A | GRCh37 |
| NC_000015.8:g.76696535G>A | NCBI36 |
| NG_016143.1:g.9158C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.268-5C>T MANE Select | ENSP00000315602.5:n.268-5C>T | |
| ENST00000326828.5:c.268-5C>T | ENSP00000315602.5:n.268-5C>T | |
| ENST00000348639.7:c.268-5C>T | ENSP00000267951.4:n.268-5C>T | |
| ENST00000559658.5:c.268-5C>T | ENSP00000452896.1:n.268-5C>T | |
| NM_000743.4:c.268-5C>T | NP_000734.2:n.268-5C>T | |
| NM_001166694.1:c.268-5C>T | NP_001160166.1:n.268-5C>T | |
| NR_046313.1:n.769-5C>T | ||
| XM_006720382.1:c.67-5C>T | XP_006720445.1:n.67-5C>T | |
| XM_011521173.1:c.187-5C>T | XP_011519475.1:n.187-5C>T | |
| XM_006720382.3:c.67-5C>T | XP_006720445.1:n.67-5C>T | |
| NM_000743.5:c.268-5C>T MANE Select | NP_000734.2:n.268-5C>T | |
| NM_001166694.2:c.268-5C>T | NP_001160166.1:n.268-5C>T | |
| NR_046313.2:n.470-5C>T |