Linked Data
ClinVar Variation Id:
294378
ClinVar RCV Id:
RCV000648056
dbSNP Id:
rs147471420
ExAC:
1:19203949 C / T
gnomAD v2:
1-19203949-C-T
gnomAD v3:
1-18877455-C-T
gnomAD v4:
1-18877455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18877455C>T , CM000663.2:g.18877455C>T | GRCh38 |
| NC_000001.10:g.19203949C>T , CM000663.1:g.19203949C>T | GRCh37 |
| NC_000001.9:g.19076536C>T | NCBI36 |
| NG_012283.1:g.30345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.1098G>A MANE Select | ENSP00000364490.3:p.Gly366= | |
| ENST00000290597.9:c.1098G>A | ENSP00000290597.5:p.Gly366= | |
| ENST00000375341.7:c.1098G>A | ENSP00000364490.3:p.Gly366= | |
| ENST00000494072.3:c.2150G>A | ||
| ENST00000538309.5:c.918G>A | ENSP00000442988.1:p.Gly306= | |
| ENST00000538839.5:c.1098G>A | ENSP00000446071.1:p.Gly366= | |
| NM_001161504.1:c.918G>A | NP_001154976.1:p.Gly306= | |
| NM_003748.3:c.1098G>A | NP_003739.2:p.Gly366= | |
| NM_170726.2:c.1098G>A | NP_733844.1:p.Gly366= | |
| XM_011542352.1:c.1098G>A | XP_011540654.1:p.Gly366= | |
| XM_011542353.1:c.910G>A | XP_011540655.1:p.Ala304Thr | |
| XR_946786.1:n.967G>A | ||
| NM_001319218.1:c.1098G>A | NP_001306147.1:p.Gly366= | |
| XR_001737510.1:n.967G>A | ||
| NM_003748.4:c.1098G>A MANE Select | NP_003739.2:p.Gly366= | |
| NM_170726.3:c.1098G>A | NP_733844.1:p.Gly366= | |
| NM_001161504.2:c.918G>A | NP_001154976.1:p.Gly306= | |
| NM_001319218.2:c.1098G>A | NP_001306147.1:p.Gly366= |