Linked Data
ClinVar Variation Id:
5420
dbSNP Id:
rs121908415
gnomAD v3:
19-38710286-A-G
gnomAD v4:
19-38710286-A-G
PubMed:
PMID:10700177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38710286A>G , CM000681.2:g.38710286A>G | GRCh38 |
| NC_000019.9:g.39200926A>G , CM000681.1:g.39200926A>G | GRCh37 |
| NC_000019.8:g.43892766A>G | NCBI36 |
| NG_007082.2:g.67600A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440400.3:c.733+810A>G | ENSP00000398393.2:n.733+810A>G | |
| ENST00000697712.1:c.622A>G | ENSP00000513410.1:p.Lys208Glu | |
| ENST00000252699.7:c.763A>G MANE Select | ENSP00000252699.2:p.Lys255Glu | |
| ENST00000424234.7:c.733+810A>G | ENSP00000411187.4:n.733+810A>G | |
| ENST00000440400.2:c.733+810A>G | ENSP00000398393.2:n.733+810A>G | |
| ENST00000252699.6:c.763A>G | ENSP00000252699.2:p.Lys255Glu | |
| ENST00000390009.7:c.163-4183A>G | ENSP00000439497.1:n.163-4183A>G | |
| ENST00000424234.6:c.272+9577A>G | ENSP00000411187.3:n.272+9577A>G | |
| ENST00000586538.1:c.136+810A>G | ENSP00000465176.1:n.136+810A>G | |
| ENST00000588618.5:n.860A>G | ||
| ENST00000589528.1:c.285+9572A>G | ||
| NM_004924.4:c.763A>G | NP_004915.2:p.Lys255Glu | |
| XM_005259281.3:c.763A>G | XP_005259338.1:p.Lys255Glu | |
| XM_005259282.3:c.733+810A>G | XP_005259339.1:n.733+810A>G | |
| XM_006723406.1:c.733+810A>G | XP_006723469.1:n.733+810A>G | |
| NM_001322033.1:c.733+810A>G | NP_001308962.1:n.733+810A>G | |
| NM_004924.5:c.763A>G | NP_004915.2:p.Lys255Glu | |
| XM_005259281.5:c.763A>G | XP_005259338.1:p.Lys255Glu | |
| XM_006723406.3:c.733+810A>G | XP_006723469.1:n.733+810A>G | |
| XM_017027331.2:c.763A>G | XP_016882820.1:p.Lys255Glu | |
| XR_001753937.1:n.123-8122T>C | ||
| NM_004924.6:c.763A>G MANE Select | NP_004915.2:p.Lys255Glu | |
| NM_001322033.2:c.733+810A>G | NP_001308962.1:n.733+810A>G |