Linked Data
ClinVar Variation Id:
601
dbSNP Id:
rs199475584
gnomAD v2:
12-103237426-T-A
gnomAD v4:
12-102843648-T-A
ERepo:
CA229379/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843648T>A , CM000674.2:g.102843648T>A | GRCh38 |
| NC_000012.11:g.103237426T>A , CM000674.1:g.103237426T>A | GRCh37 |
| NC_000012.10:g.101761556T>A | NCBI36 |
| NG_008690.1:g.78955A>T | |
| NG_008690.2:g.119763A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1197A>T MANE Select | ENSP00000448059.1:p.Val399= | |
| ENST00000307000.7:c.1182A>T | ENSP00000303500.2:p.Val394= | |
| ENST00000549247.6:n.956A>T | ||
| ENST00000551114.2:n.859A>T | ||
| ENST00000553106.5:c.1197A>T | ENSP00000448059.1:p.Val399= | |
| ENST00000635477.1:c.301A>T | ||
| ENST00000635528.1:n.712A>T | ||
| NM_000277.1:c.1197A>T | NP_000268.1:p.Val399= | |
| XM_011538422.1:c.1140A>T | XP_011536724.1:p.Val380= | |
| NM_000277.2:c.1197A>T | NP_000268.1:p.Val399= | |
| NM_001354304.1:c.1197A>T | NP_001341233.1:p.Val399= | |
| NM_000277.3:c.1197A>T MANE Select | NP_000268.1:p.Val399= | |
| NM_001354304.2:c.1197A>T | NP_001341233.1:p.Val399= |