Linked Data
ClinVar Variation Id:
317066
dbSNP Id:
rs148682268
ExAC:
15:73029294 G / A
gnomAD v2:
15-73029294-G-A
gnomAD v3:
15-72736953-G-A
gnomAD v4:
15-72736953-G-A
COSMIC:
COSM964637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72736953G>A , CM000677.2:g.72736953G>A | GRCh38 |
| NC_000015.9:g.73029294G>A , CM000677.1:g.73029294G>A | GRCh37 |
| NC_000015.8:g.70816347G>A | NCBI36 |
| NG_009416.2:g.55769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1440G>A MANE Select | ENSP00000268057.4:p.Thr480= | |
| ENST00000268057.8:c.1440G>A | ENSP00000268057.4:p.Thr480= | |
| ENST00000395205.6:c.924G>A | ENSP00000378631.3:p.Thr308= | |
| ENST00000562084.5:c.*1519G>A | ENSP00000454718.1:n.*1519G>A | |
| ENST00000566197.1:c.485G>A | ||
| ENST00000566400.5:c.*1330G>A | ENSP00000456759.1:n.*1330G>A | |
| ENST00000567279.5:c.*1294G>A | ENSP00000456664.1:n.*1294G>A | |
| ENST00000568535.1:n.642G>A | ||
| NM_001252678.1:c.924G>A | NP_001239607.1:p.Thr308= | |
| NM_033028.4:c.1440G>A | NP_149017.2:p.Thr480= | |
| NR_045565.1:n.1547G>A | ||
| NR_045566.1:n.1802G>A | ||
| XM_006720625.2:c.1371G>A | XP_006720688.1:p.Thr457= | |
| XM_011521848.1:c.924G>A | XP_011520150.1:p.Thr308= | |
| XM_011521849.1:c.924G>A | XP_011520151.1:p.Thr308= | |
| XM_011521850.1:c.924G>A | XP_011520152.1:p.Thr308= | |
| XM_011521851.1:c.708G>A | XP_011520153.1:p.Thr236= | |
| NM_001320665.1:c.1371G>A | NP_001307594.1:p.Thr457= | |
| XM_017022450.1:c.1395G>A | XP_016877939.1:p.Thr465= | |
| XM_017022452.1:c.924G>A | XP_016877941.1:p.Thr308= | |
| XM_017022453.1:c.924G>A | XP_016877942.1:p.Thr308= | |
| XM_017022454.1:c.924G>A | XP_016877943.1:p.Thr308= | |
| NM_033028.5:c.1440G>A MANE Select | NP_149017.2:p.Thr480= | |
| NM_001252678.2:c.924G>A | NP_001239607.1:p.Thr308= | |
| NM_001320665.2:c.1371G>A | NP_001307594.1:p.Thr457= | |
| NR_045565.2:n.1519G>A | ||
| NR_045566.2:n.1774G>A |