Linked Data
dbSNP Id:
rs3743077
gnomAD v2:
15-78894896-C-T
gnomAD v3:
15-78602554-C-T
gnomAD v4:
15-78602554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602554C>T , CM000677.2:g.78602554C>T | GRCh38 |
| NC_000015.9:g.78894896C>T , CM000677.1:g.78894896C>T | GRCh37 |
| NC_000015.8:g.76681951C>T | NCBI36 |
| NG_016143.1:g.23742G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.378-290G>A MANE Select | ENSP00000315602.5:n.378-290G>A | |
| ENST00000326828.5:c.378-290G>A | ENSP00000315602.5:n.378-290G>A | |
| ENST00000348639.7:c.378-290G>A | ENSP00000267951.4:n.378-290G>A | |
| ENST00000558903.1:n.85-290G>A | ||
| ENST00000559658.5:c.378-290G>A | ENSP00000452896.1:n.378-290G>A | |
| NM_000743.4:c.378-290G>A | NP_000734.2:n.378-290G>A | |
| NM_001166694.1:c.378-290G>A | NP_001160166.1:n.378-290G>A | |
| NR_046313.1:n.879-290G>A | ||
| XM_006720382.1:c.177-290G>A | XP_006720445.1:n.177-290G>A | |
| XM_011521173.1:c.297-290G>A | XP_011519475.1:n.297-290G>A | |
| XM_006720382.3:c.177-290G>A | XP_006720445.1:n.177-290G>A | |
| NM_000743.5:c.378-290G>A MANE Select | NP_000734.2:n.378-290G>A | |
| NM_001166694.2:c.378-290G>A | NP_001160166.1:n.378-290G>A | |
| NR_046313.2:n.580-290G>A |