Linked Data
ClinVar Variation Id:
102830
dbSNP Id:
rs62642908
gnomAD v4:
12-102852887-C-A
ERepo:
CA229753/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852887C>A , CM000674.2:g.102852887C>A | GRCh38 |
| NC_000012.11:g.103246665C>A , CM000674.1:g.103246665C>A | GRCh37 |
| NC_000012.10:g.101770795C>A | NCBI36 |
| NG_008690.1:g.69716G>T | |
| NG_008690.2:g.110524G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.770G>T MANE Select | ENSP00000448059.1:p.Gly257Val | |
| ENST00000307000.7:c.755G>T | ENSP00000303500.2:p.Gly252Val | |
| ENST00000549247.6:n.529G>T | ||
| ENST00000553106.5:c.770G>T | ENSP00000448059.1:p.Gly257Val | |
| NM_000277.1:c.770G>T | NP_000268.1:p.Gly257Val | |
| XM_011538422.1:c.770G>T | XP_011536724.1:p.Gly257Val | |
| NM_000277.2:c.770G>T | NP_000268.1:p.Gly257Val | |
| NM_001354304.1:c.770G>T | NP_001341233.1:p.Gly257Val | |
| NM_000277.3:c.770G>T MANE Select | NP_000268.1:p.Gly257Val | |
| NM_001354304.2:c.770G>T | NP_001341233.1:p.Gly257Val |