Linked Data
ClinVar Variation Id:
783829
ClinVar RCV Id:
RCV000965434
dbSNP Id:
rs75480801
ExAC:
19:36831950 C / G
gnomAD v2:
19-36831950-C-G
gnomAD v3:
19-36341048-C-G
gnomAD v4:
19-36341048-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36341048C>G , CM000681.2:g.36341048C>G | GRCh38 |
| NC_000019.9:g.36831950C>G , CM000681.1:g.36831950C>G | GRCh37 |
| NC_000019.8:g.41523790C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270001.12:c.778G>C MANE Select | ENSP00000270001.6:p.Glu260Gln | |
| ENST00000270001.11:c.778G>C | ENSP00000270001.6:p.Glu260Gln | |
| NM_001297619.1:c.781G>C | NP_001284548.1:p.Glu261Gln | |
| NM_020917.2:c.778G>C | NP_065968.1:p.Glu260Gln | |
| XM_011527163.1:c.781G>C | XP_011525465.1:p.Glu261Gln | |
| XM_017027038.1:c.778G>C | XP_016882527.1:p.Glu260Gln | |
| XM_024451625.1:c.463G>C | XP_024307393.1:p.Glu155Gln | |
| NM_020917.3:c.778G>C MANE Select | NP_065968.1:p.Glu260Gln | |
| NM_001297619.2:c.781G>C | NP_001284548.1:p.Glu261Gln |