Linked Data
ClinVar Variation Id:
1925964
ClinVar RCV Id:
RCV002626171
dbSNP Id:
rs756005941
ExAC:
19:11311388 C / G
gnomAD v2:
19-11311388-C-G
gnomAD v4:
19-11200712-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11200712C>G , CM000681.2:g.11200712C>G | GRCh38 |
| NC_000019.9:g.11311388C>G , CM000681.1:g.11311388C>G | GRCh37 |
| NC_000019.8:g.11172388C>G | NCBI36 |
| NG_031953.1:g.66781G>C | |
| NG_051186.1:g.1856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.6044+4G>C | ENSP00000468638.2:n.6044+4G>C | |
| ENST00000294618.12:c.5939+4G>C MANE Select | ENSP00000294618.6:n.5939+4G>C | |
| ENST00000294618.11:c.5939+4G>C | ENSP00000294618.6:n.5939+4G>C | |
| ENST00000586702.1:n.842+4G>C | ||
| ENST00000587656.5:c.3804+4G>C | ||
| ENST00000587734.1:c.76-1173G>C | ENSP00000468291.1:n.76-1173G>C | |
| NM_020812.3:c.5939+4G>C | NP_065863.2:n.5939+4G>C | |
| XM_005260000.2:c.6137+4G>C | XP_005260057.1:n.6137+4G>C | |
| XM_005260001.2:c.6044+4G>C | XP_005260058.1:n.6044+4G>C | |
| XM_006722804.2:c.3275+4G>C | XP_006722867.1:n.3275+4G>C | |
| XM_011528150.1:c.6077+4G>C | XP_011526452.1:n.6077+4G>C | |
| XM_011528151.1:c.6065+4G>C | XP_011526453.1:n.6065+4G>C | |
| XM_011528152.1:c.5972+4G>C | XP_011526454.1:n.5972+4G>C | |
| XR_936195.1:n.6184+4G>C | ||
| XM_006722804.3:c.3275+4G>C | XP_006722867.1:n.3275+4G>C | |
| NM_001367830.1:c.6044+4G>C | NP_001354759.1:n.6044+4G>C | |
| NM_020812.4:c.5939+4G>C MANE Select | NP_065863.2:n.5939+4G>C |