Linked Data
ClinVar Variation Id:
286121
dbSNP Id:
rs145092724
ExAC:
15:91542967 A / C
gnomAD v2:
15-91542967-A-C
gnomAD v3:
15-90999737-A-C
gnomAD v4:
15-90999737-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999737A>C , CM000677.2:g.90999737A>C | GRCh38 |
| NC_000015.9:g.91542967A>C , CM000677.1:g.91542967A>C | GRCh37 |
| NC_000015.8:g.89343971A>C | NCBI36 |
| NG_012162.1:g.27867T>G , LRG_884:g.27867T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1714T>G MANE Select | ENSP00000327650.4:p.Phe572Val | |
| ENST00000643536.1:c.1714T>G | ENSP00000494429.1:p.Phe572Val | |
| ENST00000647331.1:c.1714T>G | ENSP00000493953.1:p.Phe572Val | |
| ENST00000333371.7:c.1714T>G | ENSP00000327650.3:p.Phe572Val | |
| ENST00000535906.1:c.1633T>G | ENSP00000444053.1:p.Phe545Val | |
| ENST00000554660.1:n.649T>G | ||
| ENST00000557470.5:n.148-683T>G | ||
| ENST00000574755.5:c.*1409T>G | ENSP00000460413.1:n.*1409T>G | |
| NM_001289148.1:c.1633T>G | NP_001276077.1:p.Phe545Val | |
| NM_001289149.1:c.1441T>G | NP_001276078.1:p.Phe481Val | |
| NM_018668.4:c.1714T>G , LRG_884t1:c.1714T>G | NP_061138.3:p.Phe572Val | |
| XM_005254884.2:c.1636T>G | XP_005254941.1:p.Phe546Val | |
| XM_005254887.1:c.1441T>G | XP_005254944.1:p.Phe481Val | |
| XM_011521448.1:c.1441T>G | XP_011519750.1:p.Phe481Val | |
| XM_011521449.1:c.1390T>G | XP_011519751.1:p.Phe464Val | |
| XM_011521449.2:c.1390T>G | XP_011519751.1:p.Phe464Val | |
| XM_017022075.2:c.1369T>G | XP_016877564.1:p.Phe457Val | |
| XM_017022076.1:c.1369T>G | XP_016877565.1:p.Phe457Val | |
| XR_001751213.2:n.2212T>G | ||
| NM_018668.5:c.1714T>G MANE Select | NP_061138.3:p.Phe572Val |