Linked Data
ClinVar Variation Id:
518290
dbSNP Id:
rs3810307
ExAC:
19:11332570 T / A
gnomAD v2:
19-11332570-T-A
gnomAD v3:
19-11221894-T-A
gnomAD v4:
19-11221894-T-A
MyVariant Identifiers:
chr19:g.11332570T>A (hg19)
chr19:g.11332570_11332573delinsAAGC (hg19)
chr19:g.11221894T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11221894T>A , CM000681.2:g.11221894T>A | GRCh38 |
| NC_000019.9:g.11332570T>A , CM000681.1:g.11332570T>A | GRCh37 |
| NC_000019.8:g.11193570T>A | NCBI36 |
| NG_031953.1:g.45599A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.3612A>T | ENSP00000468638.2:p.Leu1204= | |
| ENST00000294618.12:c.3507A>T MANE Select | ENSP00000294618.6:p.Leu1169= | |
| ENST00000294618.11:c.3507A>T | ENSP00000294618.6:p.Leu1169= | |
| ENST00000587656.5:c.1372A>T | ||
| NM_020812.3:c.3507A>T | NP_065863.2:p.Leu1169= | |
| XM_005260000.2:c.3705A>T | XP_005260057.1:p.Leu1235= | |
| XM_005260001.2:c.3612A>T | XP_005260058.1:p.Leu1204= | |
| XM_006722804.2:c.843A>T | XP_006722867.1:p.Leu281= | |
| XM_011528150.1:c.3645A>T | XP_011526452.1:p.Leu1215= | |
| XM_011528151.1:c.3633A>T | XP_011526453.1:p.Leu1211= | |
| XM_011528152.1:c.3540A>T | XP_011526454.1:p.Leu1180= | |
| XM_011528153.1:c.3645A>T | XP_011526455.1:p.Leu1215= | |
| XR_936195.1:n.3706A>T | ||
| XR_936196.1:n.3723A>T | ||
| XM_006722804.3:c.843A>T | XP_006722867.1:p.Leu281= | |
| NM_001367830.1:c.3612A>T | NP_001354759.1:p.Leu1204= | |
| NM_020812.4:c.3507A>T MANE Select | NP_065863.2:p.Leu1169= |