Linked Data
ClinVar Variation Id:
24887
ClinVar RCV Id:
RCV000411509
RCV000409959
RCV000465806
RCV000573056
RCV001102551
RCV001102550
RCV001107801
RCV001107802
dbSNP Id:
rs75873440
ExAC:
10:43607621 G / A
gnomAD v2:
10-43607621-G-A
gnomAD v3:
10-43112173-G-A
gnomAD v4:
10-43112173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43112173G>A , CM000672.2:g.43112173G>A | GRCh38 |
| NC_000010.10:g.43607621G>A , CM000672.1:g.43607621G>A | GRCh37 |
| NC_000010.9:g.42927627G>A | NCBI36 |
| NG_007489.1:g.40105G>A , LRG_518:g.40105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1201G>A | ENSP00000480088.2:p.Gly401Ser | |
| ENST00000683007.1:n.1171G>A | ||
| ENST00000683872.1:n.358G>A | ||
| ENST00000340058.6:c.1597G>A | ENSP00000344798.4:p.Gly533Ser | |
| ENST00000355710.8:c.1597G>A MANE Select | ENSP00000347942.3:p.Gly533Ser | |
| ENST00000671844.1:c.*191G>A | ENSP00000500541.1:n.*191G>A | |
| ENST00000672389.1:c.*191G>A | ENSP00000500252.1:n.*191G>A | |
| ENST00000340058.5:c.1597G>A | ENSP00000344798.4:p.Gly533Ser | |
| ENST00000355710.7:c.1597G>A | ENSP00000347942.3:p.Gly533Ser | |
| ENST00000498820.5:c.148G>A | ENSP00000419080.1:p.Gly50Ser | |
| ENST00000615310.4:c.1289+941G>A | ENSP00000480088.1:n.1289+941G>A | |
| NM_020630.4:c.1597G>A , LRG_518t2:c.1597G>A | NP_065681.1:p.Gly533Ser | |
| NM_020975.4:c.1597G>A , LRG_518t1:c.1597G>A | NP_066124.1:p.Gly533Ser | |
| XM_011540027.1:c.1597G>A | XP_011538329.1:p.Gly533Ser | |
| NM_001355216.1:c.835G>A | NP_001342145.1:p.Gly279Ser | |
| NM_020630.5:c.1597G>A | NP_065681.1:p.Gly533Ser | |
| NM_020975.5:c.1597G>A | NP_066124.1:p.Gly533Ser | |
| NM_020975.6:c.1597G>A MANE Select | NP_066124.1:p.Gly533Ser | |
| NM_020630.6:c.1597G>A | NP_065681.1:p.Gly533Ser |