Linked Data
ClinVar Variation Id:
1928970
ClinVar RCV Id:
RCV002618486
dbSNP Id:
rs778122477
ExAC:
1:180772543 G / A
gnomAD v2:
1-180772543-G-A
gnomAD v4:
1-180803407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803407G>A , CM000663.2:g.180803407G>A | GRCh38 |
| NC_000001.10:g.180772543G>A , CM000663.1:g.180772543G>A | GRCh37 |
| NC_000001.9:g.179039166G>A | NCBI36 |
| NG_050964.1:g.176398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.243G>A MANE Select | ENSP00000356562.4:p.Gln81= | |
| ENST00000367589.3:c.243G>A | ENSP00000356561.3:p.Gln81= | |
| ENST00000367590.8:c.243G>A | ENSP00000356562.4:p.Gln81= | |
| NM_001135669.1:c.243G>A | NP_001129141.1:p.Gln81= | |
| NM_004736.3:c.243G>A | NP_004727.2:p.Gln81= | |
| NM_001328662.1:c.243G>A | NP_001315591.1:p.Gln81= | |
| NR_137330.1:n.435G>A | ||
| NM_001135669.2:c.243G>A | NP_001129141.1:p.Gln81= | |
| NM_001328662.2:c.243G>A | NP_001315591.1:p.Gln81= | |
| NM_004736.4:c.243G>A MANE Select | NP_004727.2:p.Gln81= | |
| NR_137330.2:n.423G>A |