Linked Data
ClinVar Variation Id:
261044
dbSNP Id:
rs148071246
ExAC:
15:91543010 T / C
gnomAD v2:
15-91543010-T-C
gnomAD v3:
15-90999780-T-C
gnomAD v4:
15-90999780-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999780T>C , CM000677.2:g.90999780T>C | GRCh38 |
| NC_000015.9:g.91543010T>C , CM000677.1:g.91543010T>C | GRCh37 |
| NC_000015.8:g.89344014T>C | NCBI36 |
| NG_012162.1:g.27824A>G , LRG_884:g.27824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1671A>G MANE Select | ENSP00000327650.4:p.Glu557= | |
| ENST00000643536.1:c.1671A>G | ENSP00000494429.1:p.Glu557= | |
| ENST00000647331.1:c.1671A>G | ENSP00000493953.1:p.Glu557= | |
| ENST00000333371.7:c.1671A>G | ENSP00000327650.3:p.Glu557= | |
| ENST00000535906.1:c.1590A>G | ENSP00000444053.1:p.Glu530= | |
| ENST00000554660.1:n.606A>G | ||
| ENST00000557470.5:n.147+710A>G | ||
| ENST00000574755.5:c.*1366A>G | ENSP00000460413.1:n.*1366A>G | |
| NM_001289148.1:c.1590A>G | NP_001276077.1:p.Glu530= | |
| NM_001289149.1:c.1398A>G | NP_001276078.1:p.Glu466= | |
| NM_018668.4:c.1671A>G , LRG_884t1:c.1671A>G | NP_061138.3:p.Glu557= | |
| XM_005254884.2:c.1593A>G | XP_005254941.1:p.Glu531= | |
| XM_005254887.1:c.1398A>G | XP_005254944.1:p.Glu466= | |
| XM_011521448.1:c.1398A>G | XP_011519750.1:p.Glu466= | |
| XM_011521449.1:c.1347A>G | XP_011519751.1:p.Glu449= | |
| XM_011521449.2:c.1347A>G | XP_011519751.1:p.Glu449= | |
| XM_017022075.2:c.1326A>G | XP_016877564.1:p.Glu442= | |
| XM_017022076.1:c.1326A>G | XP_016877565.1:p.Glu442= | |
| XR_001751213.2:n.2169A>G | ||
| NM_018668.5:c.1671A>G MANE Select | NP_061138.3:p.Glu557= |