Linked Data
ClinVar Variation Id:
372605
dbSNP Id:
rs747807884
ExAC:
15:66777505 A / G
gnomAD v2:
15-66777505-A-G
gnomAD v3:
15-66485167-A-G
gnomAD v4:
15-66485167-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485167A>G , CM000677.2:g.66485167A>G | GRCh38 |
| NC_000015.9:g.66777505A>G , CM000677.1:g.66777505A>G | GRCh37 |
| NC_000015.8:g.64564559A>G | NCBI36 |
| NG_008305.1:g.103295A>G , LRG_725:g.103295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2061A>G | ENSP00000508681.1:n.628-2061A>G | |
| ENST00000685172.1:c.871A>G | ENSP00000509604.1:p.Arg291Gly | |
| ENST00000685763.1:c.724A>G | ENSP00000509016.1:p.Arg242Gly | |
| ENST00000686347.1:c.569-2061A>G | ENSP00000509027.1:n.569-2061A>G | |
| ENST00000687191.1:n.1229A>G | ||
| ENST00000687481.1:n.286A>G | ||
| ENST00000689951.1:c.922A>G | ENSP00000509308.1:p.Arg308Gly | |
| ENST00000691077.1:c.*108A>G | ENSP00000509843.1:n.*108A>G | |
| ENST00000691576.1:c.742A>G | ENSP00000510066.1:p.Arg248Gly | |
| ENST00000691937.1:c.871A>G | ENSP00000508768.1:p.Arg291Gly | |
| ENST00000692487.1:c.*108A>G | ENSP00000509534.1:n.*108A>G | |
| ENST00000692683.1:c.805A>G | ENSP00000508437.1:p.Arg269Gly | |
| ENST00000693150.1:c.727A>G | ENSP00000510309.1:p.Arg243Gly | |
| ENST00000307102.10:c.871A>G MANE Select | ENSP00000302486.5:p.Arg291Gly | |
| ENST00000307102.9:c.871A>G | ENSP00000302486.4:p.Arg291Gly | |
| ENST00000566326.1:c.343A>G | ENSP00000456438.1:p.Arg115Gly | |
| NM_002755.3:c.871A>G , LRG_725t1:c.871A>G | NP_002746.1:p.Arg291Gly | |
| XM_011521783.1:c.805A>G | XP_011520085.1:p.Arg269Gly | |
| XM_011521783.3:c.805A>G | XP_011520085.1:p.Arg269Gly | |
| XM_017022411.2:c.793A>G | XP_016877900.1:p.Arg265Gly | |
| XM_017022412.1:c.727A>G | XP_016877901.1:p.Arg243Gly | |
| XM_017022413.1:c.343A>G | XP_016877902.1:p.Arg115Gly | |
| NM_002755.4:c.871A>G MANE Select | NP_002746.1:p.Arg291Gly |