Linked Data
ClinVar Variation Id:
1950591
ClinVar RCV Id:
RCV002681351
dbSNP Id:
rs758646909
ExAC:
12:103238147 A / G
gnomAD v2:
12-103238147-A-G
gnomAD v4:
12-102844369-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844369A>G , CM000674.2:g.102844369A>G | GRCh38 |
| NC_000012.11:g.103238147A>G , CM000674.1:g.103238147A>G | GRCh37 |
| NC_000012.10:g.101762277A>G | NCBI36 |
| NG_008690.1:g.78234T>C | |
| NG_008690.2:g.119042T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1032T>C MANE Select | ENSP00000448059.1:p.Gly344= | |
| ENST00000307000.7:c.1017T>C | ENSP00000303500.2:p.Gly339= | |
| ENST00000549247.6:n.791T>C | ||
| ENST00000551114.2:n.694T>C | ||
| ENST00000553106.5:c.1032T>C | ENSP00000448059.1:p.Gly344= | |
| ENST00000635477.1:c.136T>C | ||
| ENST00000635528.1:n.547T>C | ||
| NM_000277.1:c.1032T>C | NP_000268.1:p.Gly344= | |
| XM_011538422.1:c.975T>C | XP_011536724.1:p.Gly325= | |
| NM_000277.2:c.1032T>C | NP_000268.1:p.Gly344= | |
| NM_001354304.1:c.1032T>C | NP_001341233.1:p.Gly344= | |
| NM_000277.3:c.1032T>C MANE Select | NP_000268.1:p.Gly344= | |
| NM_001354304.2:c.1032T>C | NP_001341233.1:p.Gly344= |