Linked Data
ClinVar Variation Id:
531818
dbSNP Id:
rs141345544
ExAC:
15:73023798 G / A
gnomAD v2:
15-73023798-G-A
gnomAD v3:
15-72731457-G-A
gnomAD v4:
15-72731457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72731457G>A , CM000677.2:g.72731457G>A | GRCh38 |
| NC_000015.9:g.73023798G>A , CM000677.1:g.73023798G>A | GRCh37 |
| NC_000015.8:g.70810851G>A | NCBI36 |
| NG_009416.2:g.50273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.864G>A MANE Select | ENSP00000268057.4:p.Ala288= | |
| ENST00000268057.8:c.864G>A | ENSP00000268057.4:p.Ala288= | |
| ENST00000395205.6:c.348G>A | ENSP00000378631.3:p.Ala116= | |
| ENST00000561914.5:c.*440G>A | ENSP00000457795.1:n.*440G>A | |
| ENST00000562084.5:c.*943G>A | ENSP00000454718.1:n.*943G>A | |
| ENST00000562219.1:n.299G>A | ||
| ENST00000566400.5:c.*754G>A | ENSP00000456759.1:n.*754G>A | |
| ENST00000567279.5:c.*718G>A | ENSP00000456664.1:n.*718G>A | |
| ENST00000569338.5:c.786G>A | ENSP00000456758.1:p.Ala262= | |
| NM_001252678.1:c.348G>A | NP_001239607.1:p.Ala116= | |
| NM_033028.4:c.864G>A | NP_149017.2:p.Ala288= | |
| NR_045565.1:n.971G>A | ||
| NR_045566.1:n.1226G>A | ||
| XM_006720625.2:c.795G>A | XP_006720688.1:p.Ala265= | |
| XM_011521848.1:c.348G>A | XP_011520150.1:p.Ala116= | |
| XM_011521849.1:c.348G>A | XP_011520151.1:p.Ala116= | |
| XM_011521850.1:c.348G>A | XP_011520152.1:p.Ala116= | |
| XM_011521851.1:c.132G>A | XP_011520153.1:p.Ala44= | |
| NM_001320665.1:c.795G>A | NP_001307594.1:p.Ala265= | |
| XM_017022450.1:c.819G>A | XP_016877939.1:p.Ala273= | |
| XM_017022452.1:c.348G>A | XP_016877941.1:p.Ala116= | |
| XM_017022453.1:c.348G>A | XP_016877942.1:p.Ala116= | |
| XM_017022454.1:c.348G>A | XP_016877943.1:p.Ala116= | |
| NM_033028.5:c.864G>A MANE Select | NP_149017.2:p.Ala288= | |
| NM_001252678.2:c.348G>A | NP_001239607.1:p.Ala116= | |
| NM_001320665.2:c.795G>A | NP_001307594.1:p.Ala265= | |
| NR_045565.2:n.943G>A | ||
| NR_045566.2:n.1198G>A |