Linked Data
ClinVar Variation Id:
806927
ClinVar RCV Id:
RCV000994964
dbSNP Id:
rs1592949408
gnomAD v4:
12-102846908-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846908T>C , CM000674.2:g.102846908T>C | GRCh38 |
| NC_000012.11:g.103240686T>C , CM000674.1:g.103240686T>C | GRCh37 |
| NC_000012.10:g.101764816T>C | NCBI36 |
| NG_008690.1:g.75695A>G | |
| NG_008690.2:g.116503A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.956A>G MANE Select | ENSP00000448059.1:p.Glu319Gly | |
| ENST00000307000.7:c.941A>G | ENSP00000303500.2:p.Glu314Gly | |
| ENST00000549247.6:n.715A>G | ||
| ENST00000551114.2:n.618A>G | ||
| ENST00000553106.5:c.956A>G | ENSP00000448059.1:p.Glu319Gly | |
| ENST00000635477.1:c.74-2477A>G | ||
| ENST00000635528.1:n.471A>G | ||
| NM_000277.1:c.956A>G | NP_000268.1:p.Glu319Gly | |
| XM_011538422.1:c.913-2477A>G | XP_011536724.1:n.913-2477A>G | |
| NM_000277.2:c.956A>G | NP_000268.1:p.Glu319Gly | |
| NM_001354304.1:c.956A>G | NP_001341233.1:p.Glu319Gly | |
| NM_000277.3:c.956A>G MANE Select | NP_000268.1:p.Glu319Gly | |
| NM_001354304.2:c.956A>G | NP_001341233.1:p.Glu319Gly |