Linked Data
ClinVar Variation Id:
13916
ClinVar RCV Id:
RCV000014936
RCV000021801
RCV000413879
RCV000420281
RCV000428368
RCV000431330
RCV000441133
RCV000678747
RCV002408464
dbSNP Id:
rs77503355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43113655G>A , CM000672.2:g.43113655G>A | GRCh38 |
| NC_000010.10:g.43609103G>A , CM000672.1:g.43609103G>A | GRCh37 |
| NC_000010.9:g.42929109G>A | NCBI36 |
| NG_007489.1:g.41587G>A , LRG_518:g.41587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1463G>A | ENSP00000480088.2:p.Cys488Tyr | |
| ENST00000683007.1:n.1433G>A | ||
| ENST00000683872.1:n.620G>A | ||
| ENST00000340058.6:c.1859G>A | ENSP00000344798.4:p.Cys620Tyr | |
| ENST00000355710.8:c.1859G>A MANE Select | ENSP00000347942.3:p.Cys620Tyr | |
| ENST00000671844.1:c.*453G>A | ENSP00000500541.1:n.*453G>A | |
| ENST00000672389.1:c.*453G>A | ENSP00000500252.1:n.*453G>A | |
| ENST00000340058.5:c.1859G>A | ENSP00000344798.4:p.Cys620Tyr | |
| ENST00000355710.7:c.1859G>A | ENSP00000347942.3:p.Cys620Tyr | |
| ENST00000498820.5:c.410G>A | ENSP00000419080.1:p.Cys137Tyr | |
| ENST00000615310.4:c.1289+2423G>A | ENSP00000480088.1:n.1289+2423G>A | |
| NM_020630.4:c.1859G>A , LRG_518t2:c.1859G>A | NP_065681.1:p.Cys620Tyr | |
| NM_020975.4:c.1859G>A , LRG_518t1:c.1859G>A | NP_066124.1:p.Cys620Tyr | |
| XM_011540027.1:c.1859G>A | XP_011538329.1:p.Cys620Tyr | |
| NM_001355216.1:c.1097G>A | NP_001342145.1:p.Cys366Tyr | |
| NM_020630.5:c.1859G>A | NP_065681.1:p.Cys620Tyr | |
| NM_020975.5:c.1859G>A | NP_066124.1:p.Cys620Tyr | |
| NM_020975.6:c.1859G>A MANE Select | NP_066124.1:p.Cys620Tyr | |
| NM_020630.6:c.1859G>A | NP_065681.1:p.Cys620Tyr |