Linked Data
ClinVar Variation Id:
518291
dbSNP Id:
rs3810309
ExAC:
19:11333787 G / A
gnomAD v2:
19-11333787-G-A
gnomAD v3:
19-11223111-G-A
gnomAD v4:
19-11223111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11223111G>A , CM000681.2:g.11223111G>A | GRCh38 |
| NC_000019.9:g.11333787G>A , CM000681.1:g.11333787G>A | GRCh37 |
| NC_000019.8:g.11194787G>A | NCBI36 |
| NG_031953.1:g.44382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.3061-5C>T | ENSP00000468638.2:n.3061-5C>T | |
| ENST00000294618.12:c.2956-5C>T MANE Select | ENSP00000294618.6:n.2956-5C>T | |
| ENST00000294618.11:c.2956-5C>T | ENSP00000294618.6:n.2956-5C>T | |
| ENST00000587656.5:c.821-5C>T | ||
| NM_020812.3:c.2956-5C>T | NP_065863.2:n.2956-5C>T | |
| XM_005260000.2:c.3154-5C>T | XP_005260057.1:n.3154-5C>T | |
| XM_005260001.2:c.3061-5C>T | XP_005260058.1:n.3061-5C>T | |
| XM_006722804.2:c.292-5C>T | XP_006722867.1:n.292-5C>T | |
| XM_011528150.1:c.3094-5C>T | XP_011526452.1:n.3094-5C>T | |
| XM_011528151.1:c.3082-5C>T | XP_011526453.1:n.3082-5C>T | |
| XM_011528152.1:c.2989-5C>T | XP_011526454.1:n.2989-5C>T | |
| XM_011528153.1:c.3094-5C>T | XP_011526455.1:n.3094-5C>T | |
| XR_936195.1:n.3155-5C>T | ||
| XR_936196.1:n.3167C>T | ||
| XR_936197.1:n.3166C>T | ||
| XR_936198.1:n.3156-5C>T | ||
| XM_006722804.3:c.292-5C>T | XP_006722867.1:n.292-5C>T | |
| NM_001367830.1:c.3061-5C>T | NP_001354759.1:n.3061-5C>T | |
| NM_020812.4:c.2956-5C>T MANE Select | NP_065863.2:n.2956-5C>T |