Linked Data
dbSNP Id:
rs1284597729
gnomAD v2:
15-78894675-A-G
gnomAD v3:
15-78602333-A-G
gnomAD v4:
15-78602333-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602333A>G , CM000677.2:g.78602333A>G | GRCh38 |
| NC_000015.9:g.78894675A>G , CM000677.1:g.78894675A>G | GRCh37 |
| NC_000015.8:g.76681730A>G | NCBI36 |
| NG_016143.1:g.23963T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.378-69T>C MANE Select | ENSP00000315602.5:n.378-69T>C | |
| ENST00000326828.5:c.378-69T>C | ENSP00000315602.5:n.378-69T>C | |
| ENST00000348639.7:c.378-69T>C | ENSP00000267951.4:n.378-69T>C | |
| ENST00000558903.1:n.85-69T>C | ||
| ENST00000559658.5:c.378-69T>C | ENSP00000452896.1:n.378-69T>C | |
| NM_000743.4:c.378-69T>C | NP_000734.2:n.378-69T>C | |
| NM_001166694.1:c.378-69T>C | NP_001160166.1:n.378-69T>C | |
| NR_046313.1:n.879-69T>C | ||
| XM_006720382.1:c.177-69T>C | XP_006720445.1:n.177-69T>C | |
| XM_011521173.1:c.297-69T>C | XP_011519475.1:n.297-69T>C | |
| XM_006720382.3:c.177-69T>C | XP_006720445.1:n.177-69T>C | |
| NM_000743.5:c.378-69T>C MANE Select | NP_000734.2:n.378-69T>C | |
| NM_001166694.2:c.378-69T>C | NP_001160166.1:n.378-69T>C | |
| NR_046313.2:n.580-69T>C |