Linked Data
ClinVar Variation Id:
1694268
ClinVar RCV Id:
RCV002264614
dbSNP Id:
rs746799175
ExAC:
19:853265 C / G
gnomAD v2:
19-853265-C-G
gnomAD v4:
19-853265-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853265C>G , CM000681.2:g.853265C>G | GRCh38 |
| NC_000019.9:g.853265C>G , CM000681.1:g.853265C>G | GRCh37 |
| NC_000019.8:g.804265C>G | NCBI36 |
| NG_009627.1:g.5975C>G , LRG_57:g.5975C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263621.2:c.228C>G MANE Select | ENSP00000263621.1:p.Asn76Lys | |
| ENST00000263621.1:c.228C>G | ENSP00000263621.1:p.Asn76Lys | |
| ENST00000590230.5:c.228C>G | ENSP00000466090.1:p.Asn76Lys | |
| NM_001972.2:c.228C>G , LRG_57t1:c.228C>G | NP_001963.1:p.Asn76Lys | |
| XM_011527775.1:c.228C>G | XP_011526077.1:p.Asn76Lys | |
| XM_011527776.1:c.228C>G | XP_011526078.1:p.Asn76Lys | |
| NM_001972.3:c.228C>G | NP_001963.1:p.Asn76Lys | |
| NM_001972.4:c.228C>G MANE Select | NP_001963.1:p.Asn76Lys |