Linked Data
ClinVar Variation Id:
499523
ClinVar RCV Id:
RCV000597264
dbSNP Id:
rs566630364
gnomAD v2:
15-91542996-C-A
gnomAD v4:
15-90999766-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999766C>A , CM000677.2:g.90999766C>A | GRCh38 |
| NC_000015.9:g.91542996C>A , CM000677.1:g.91542996C>A | GRCh37 |
| NC_000015.8:g.89344000C>A | NCBI36 |
| NG_012162.1:g.27838G>T , LRG_884:g.27838G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1685G>T MANE Select | ENSP00000327650.4:p.Ser562Ile | |
| ENST00000643536.1:c.1685G>T | ENSP00000494429.1:p.Ser562Ile | |
| ENST00000647331.1:c.1685G>T | ENSP00000493953.1:p.Ser562Ile | |
| ENST00000333371.7:c.1685G>T | ENSP00000327650.3:p.Ser562Ile | |
| ENST00000535906.1:c.1604G>T | ENSP00000444053.1:p.Ser535Ile | |
| ENST00000554660.1:n.620G>T | ||
| ENST00000557470.5:n.148-712G>T | ||
| ENST00000574755.5:c.*1380G>T | ENSP00000460413.1:n.*1380G>T | |
| NM_001289148.1:c.1604G>T | NP_001276077.1:p.Ser535Ile | |
| NM_001289149.1:c.1412G>T | NP_001276078.1:p.Ser471Ile | |
| NM_018668.4:c.1685G>T , LRG_884t1:c.1685G>T | NP_061138.3:p.Ser562Ile | |
| XM_005254884.2:c.1607G>T | XP_005254941.1:p.Ser536Ile | |
| XM_005254887.1:c.1412G>T | XP_005254944.1:p.Ser471Ile | |
| XM_011521448.1:c.1412G>T | XP_011519750.1:p.Ser471Ile | |
| XM_011521449.1:c.1361G>T | XP_011519751.1:p.Ser454Ile | |
| XM_011521449.2:c.1361G>T | XP_011519751.1:p.Ser454Ile | |
| XM_017022075.2:c.1340G>T | XP_016877564.1:p.Ser447Ile | |
| XM_017022076.1:c.1340G>T | XP_016877565.1:p.Ser447Ile | |
| XR_001751213.2:n.2183G>T | ||
| NM_018668.5:c.1685G>T MANE Select | NP_061138.3:p.Ser562Ile |