Linked Data
dbSNP Id:
rs758089338
ExAC:
15:78909380 A / T
gnomAD v2:
15-78909380-A-T
gnomAD v4:
15-78617038-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78617038A>T , CM000677.2:g.78617038A>T | GRCh38 |
| NC_000015.9:g.78909380A>T , CM000677.1:g.78909380A>T | GRCh37 |
| NC_000015.8:g.76696435A>T | NCBI36 |
| NG_016143.1:g.9258T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.363T>A MANE Select | ENSP00000315602.5:p.Ile121= | |
| ENST00000326828.5:c.363T>A | ENSP00000315602.5:p.Ile121= | |
| ENST00000348639.7:c.363T>A | ENSP00000267951.4:p.Ile121= | |
| ENST00000559658.5:c.363T>A | ENSP00000452896.1:p.Ile121= | |
| NM_000743.4:c.363T>A | NP_000734.2:p.Ile121= | |
| NM_001166694.1:c.363T>A | NP_001160166.1:p.Ile121= | |
| NR_046313.1:n.864T>A | ||
| XM_006720382.1:c.162T>A | XP_006720445.1:p.Ile54= | |
| XM_011521173.1:c.282T>A | XP_011519475.1:p.Ile94= | |
| XM_006720382.3:c.162T>A | XP_006720445.1:p.Ile54= | |
| NM_000743.5:c.363T>A MANE Select | NP_000734.2:p.Ile121= | |
| NM_001166694.2:c.363T>A | NP_001160166.1:p.Ile121= | |
| NR_046313.2:n.565T>A |