Linked Data
ClinVar Variation Id:
445617
ClinVar RCV Id:
RCV000513735
dbSNP Id:
rs200393834
ExAC:
19:11311386 G / A
gnomAD v2:
19-11311386-G-A
gnomAD v3:
19-11200710-G-A
gnomAD v4:
19-11200710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11200710G>A , CM000681.2:g.11200710G>A | GRCh38 |
| NC_000019.9:g.11311386G>A , CM000681.1:g.11311386G>A | GRCh37 |
| NC_000019.8:g.11172386G>A | NCBI36 |
| NG_031953.1:g.66783C>T | |
| NG_051186.1:g.1858C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587656.6:c.6044+6C>T | ENSP00000468638.2:n.6044+6C>T | |
| ENST00000294618.12:c.5939+6C>T MANE Select | ENSP00000294618.6:n.5939+6C>T | |
| ENST00000294618.11:c.5939+6C>T | ENSP00000294618.6:n.5939+6C>T | |
| ENST00000586702.1:n.842+6C>T | ||
| ENST00000587656.5:c.3804+6C>T | ||
| ENST00000587734.1:c.76-1171C>T | ENSP00000468291.1:n.76-1171C>T | |
| NM_020812.3:c.5939+6C>T | NP_065863.2:n.5939+6C>T | |
| XM_005260000.2:c.6137+6C>T | XP_005260057.1:n.6137+6C>T | |
| XM_005260001.2:c.6044+6C>T | XP_005260058.1:n.6044+6C>T | |
| XM_006722804.2:c.3275+6C>T | XP_006722867.1:n.3275+6C>T | |
| XM_011528150.1:c.6077+6C>T | XP_011526452.1:n.6077+6C>T | |
| XM_011528151.1:c.6065+6C>T | XP_011526453.1:n.6065+6C>T | |
| XM_011528152.1:c.5972+6C>T | XP_011526454.1:n.5972+6C>T | |
| XR_936195.1:n.6184+6C>T | ||
| XM_006722804.3:c.3275+6C>T | XP_006722867.1:n.3275+6C>T | |
| NM_001367830.1:c.6044+6C>T | NP_001354759.1:n.6044+6C>T | |
| NM_020812.4:c.5939+6C>T MANE Select | NP_065863.2:n.5939+6C>T |