Linked Data
ClinVar Variation Id:
1458264
ClinVar RCV Id:
RCV001972839
dbSNP Id:
rs62642915
gnomAD v2:
12-103240707-C-A
gnomAD v4:
12-102846929-C-A
ERepo:
CA16020902/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846929C>A , CM000674.2:g.102846929C>A | GRCh38 |
| NC_000012.11:g.103240707C>A , CM000674.1:g.103240707C>A | GRCh37 |
| NC_000012.10:g.101764837C>A | NCBI36 |
| NG_008690.1:g.75674G>T | |
| NG_008690.2:g.116482G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.935G>T MANE Select | ENSP00000448059.1:p.Gly312Val | |
| ENST00000307000.7:c.920G>T | ENSP00000303500.2:p.Gly307Val | |
| ENST00000549247.6:n.694G>T | ||
| ENST00000551114.2:n.597G>T | ||
| ENST00000553106.5:c.935G>T | ENSP00000448059.1:p.Gly312Val | |
| ENST00000635477.1:c.74-2498G>T | ||
| ENST00000635528.1:n.450G>T | ||
| NM_000277.1:c.935G>T | NP_000268.1:p.Gly312Val | |
| XM_011538422.1:c.913-2498G>T | XP_011536724.1:n.913-2498G>T | |
| NM_000277.2:c.935G>T | NP_000268.1:p.Gly312Val | |
| NM_001354304.1:c.935G>T | NP_001341233.1:p.Gly312Val | |
| NM_000277.3:c.935G>T MANE Select | NP_000268.1:p.Gly312Val | |
| NM_001354304.2:c.935G>T | NP_001341233.1:p.Gly312Val |