Linked Data
ClinVar Variation Id:
261041
dbSNP Id:
rs11073964
ExAC:
15:91543761 C / T
gnomAD v2:
15-91543761-C-T
gnomAD v3:
15-91000531-C-T
gnomAD v4:
15-91000531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91000531C>T , CM000677.2:g.91000531C>T | GRCh38 |
| NC_000015.9:g.91543761C>T , CM000677.1:g.91543761C>T | GRCh37 |
| NC_000015.8:g.89344765C>T | NCBI36 |
| NG_012162.1:g.27073G>A , LRG_884:g.27073G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.1540G>A MANE Select | ENSP00000327650.4:p.Gly514Ser | |
| ENST00000643536.1:c.1540G>A | ENSP00000494429.1:p.Gly514Ser | |
| ENST00000647331.1:c.1540G>A | ENSP00000493953.1:p.Gly514Ser | |
| ENST00000333371.7:c.1540G>A | ENSP00000327650.3:p.Gly514Ser | |
| ENST00000535906.1:c.1459G>A | ENSP00000444053.1:p.Gly487Ser | |
| ENST00000554660.1:n.475G>A | ||
| ENST00000557470.5:n.106G>A | ||
| ENST00000574755.5:c.*1235G>A | ENSP00000460413.1:n.*1235G>A | |
| NM_001289148.1:c.1459G>A | NP_001276077.1:p.Gly487Ser | |
| NM_001289149.1:c.1267G>A | NP_001276078.1:p.Gly423Ser | |
| NM_018668.4:c.1540G>A , LRG_884t1:c.1540G>A | NP_061138.3:p.Gly514Ser | |
| XM_005254884.2:c.1462G>A | XP_005254941.1:p.Gly488Ser | |
| XM_005254887.1:c.1267G>A | XP_005254944.1:p.Gly423Ser | |
| XM_011521448.1:c.1267G>A | XP_011519750.1:p.Gly423Ser | |
| XM_011521449.1:c.1216G>A | XP_011519751.1:p.Gly406Ser | |
| XM_011521449.2:c.1216G>A | XP_011519751.1:p.Gly406Ser | |
| XM_017022075.2:c.1195G>A | XP_016877564.1:p.Gly399Ser | |
| XM_017022076.1:c.1195G>A | XP_016877565.1:p.Gly399Ser | |
| XR_001751213.2:n.2038G>A | ||
| NM_018668.5:c.1540G>A MANE Select | NP_061138.3:p.Gly514Ser |