Linked Data
ClinVar Variation Id:
412297
ClinVar RCV Id:
RCV000462368
dbSNP Id:
rs749017489
ExAC:
15:73023764 G / T
gnomAD v2:
15-73023764-G-T
gnomAD v4:
15-72731423-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72731423G>T , CM000677.2:g.72731423G>T | GRCh38 |
| NC_000015.9:g.73023764G>T , CM000677.1:g.73023764G>T | GRCh37 |
| NC_000015.8:g.70810817G>T | NCBI36 |
| NG_009416.2:g.50239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.830G>T MANE Select | ENSP00000268057.4:p.Gly277Val | |
| ENST00000268057.8:c.830G>T | ENSP00000268057.4:p.Gly277Val | |
| ENST00000395205.6:c.314G>T | ENSP00000378631.3:p.Gly105Val | |
| ENST00000561914.5:c.*406G>T | ENSP00000457795.1:n.*406G>T | |
| ENST00000562084.5:c.*909G>T | ENSP00000454718.1:n.*909G>T | |
| ENST00000562219.1:n.265G>T | ||
| ENST00000566400.5:c.*720G>T | ENSP00000456759.1:n.*720G>T | |
| ENST00000567279.5:c.*684G>T | ENSP00000456664.1:n.*684G>T | |
| ENST00000569338.5:c.752G>T | ENSP00000456758.1:p.Gly251Val | |
| NM_001252678.1:c.314G>T | NP_001239607.1:p.Gly105Val | |
| NM_033028.4:c.830G>T | NP_149017.2:p.Gly277Val | |
| NR_045565.1:n.937G>T | ||
| NR_045566.1:n.1192G>T | ||
| XM_006720625.2:c.761G>T | XP_006720688.1:p.Gly254Val | |
| XM_011521848.1:c.314G>T | XP_011520150.1:p.Gly105Val | |
| XM_011521849.1:c.314G>T | XP_011520151.1:p.Gly105Val | |
| XM_011521850.1:c.314G>T | XP_011520152.1:p.Gly105Val | |
| XM_011521851.1:c.98G>T | XP_011520153.1:p.Gly33Val | |
| NM_001320665.1:c.761G>T | NP_001307594.1:p.Gly254Val | |
| XM_017022450.1:c.785G>T | XP_016877939.1:p.Gly262Val | |
| XM_017022452.1:c.314G>T | XP_016877941.1:p.Gly105Val | |
| XM_017022453.1:c.314G>T | XP_016877942.1:p.Gly105Val | |
| XM_017022454.1:c.314G>T | XP_016877943.1:p.Gly105Val | |
| NM_033028.5:c.830G>T MANE Select | NP_149017.2:p.Gly277Val | |
| NM_001252678.2:c.314G>T | NP_001239607.1:p.Gly105Val | |
| NM_001320665.2:c.761G>T | NP_001307594.1:p.Gly254Val | |
| NR_045565.2:n.909G>T | ||
| NR_045566.2:n.1164G>T |