Linked Data
ClinVar Variation Id:
24934
ClinVar RCV Id:
RCV000034769
RCV000039052
RCV000162947
RCV000340996
RCV000376859
RCV000290703
RCV000385080
RCV000660243
RCV001083339
RCV003315508
dbSNP Id:
rs1799939
ExAC:
10:43610119 G / A
gnomAD v2:
10-43610119-G-A
gnomAD v3:
10-43114671-G-A
gnomAD v4:
10-43114671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114671G>A , CM000672.2:g.43114671G>A | GRCh38 |
| NC_000010.10:g.43610119G>A , CM000672.1:g.43610119G>A | GRCh37 |
| NC_000010.9:g.42930125G>A | NCBI36 |
| NG_007489.1:g.42603G>A , LRG_518:g.42603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1675G>A | ENSP00000480088.2:p.Gly559Ser | |
| ENST00000683007.1:n.1645G>A | ||
| ENST00000683872.1:n.1636G>A | ||
| ENST00000340058.6:c.2071G>A | ENSP00000344798.4:p.Gly691Ser | |
| ENST00000355710.8:c.2071G>A MANE Select | ENSP00000347942.3:p.Gly691Ser | |
| ENST00000671844.1:c.*665G>A | ENSP00000500541.1:n.*665G>A | |
| ENST00000672389.1:c.*665G>A | ENSP00000500252.1:n.*665G>A | |
| ENST00000340058.5:c.2071G>A | ENSP00000344798.4:p.Gly691Ser | |
| ENST00000355710.7:c.2071G>A | ENSP00000347942.3:p.Gly691Ser | |
| ENST00000615310.4:c.1289+3439G>A | ENSP00000480088.1:n.1289+3439G>A | |
| NM_020630.4:c.2071G>A , LRG_518t2:c.2071G>A | NP_065681.1:p.Gly691Ser | |
| NM_020975.4:c.2071G>A , LRG_518t1:c.2071G>A | NP_066124.1:p.Gly691Ser | |
| XM_011540027.1:c.2071G>A | XP_011538329.1:p.Gly691Ser | |
| NM_001355216.1:c.1309G>A | NP_001342145.1:p.Gly437Ser | |
| NM_020630.5:c.2071G>A | NP_065681.1:p.Gly691Ser | |
| NM_020975.5:c.2071G>A | NP_066124.1:p.Gly691Ser | |
| NM_020975.6:c.2071G>A MANE Select | NP_066124.1:p.Gly691Ser | |
| NM_020630.6:c.2071G>A | NP_065681.1:p.Gly691Ser |