Linked Data
ClinVar Variation Id:
102782
dbSNP Id:
rs62508696
gnomAD v4:
12-102855166-G-A
ERepo:
CA229689/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855166G>A , CM000674.2:g.102855166G>A | GRCh38 |
| NC_000012.11:g.103248944G>A , CM000674.1:g.103248944G>A | GRCh37 |
| NC_000012.10:g.101773074G>A | NCBI36 |
| NG_008690.1:g.67437C>T | |
| NG_008690.2:g.108245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.676C>T MANE Select | ENSP00000448059.1:p.Gln226Ter | |
| ENST00000307000.7:c.661C>T | ENSP00000303500.2:p.Gln221Ter | |
| ENST00000549111.5:n.772C>T | ||
| ENST00000553106.5:c.676C>T | ENSP00000448059.1:p.Gln226Ter | |
| NM_000277.1:c.676C>T | NP_000268.1:p.Gln226Ter | |
| XM_011538422.1:c.676C>T | XP_011536724.1:p.Gln226Ter | |
| NM_000277.2:c.676C>T | NP_000268.1:p.Gln226Ter | |
| NM_001354304.1:c.676C>T | NP_001341233.1:p.Gln226Ter | |
| XM_017019370.2:c.676C>T | XP_016874859.1:p.Gln226Ter | |
| NM_000277.3:c.676C>T MANE Select | NP_000268.1:p.Gln226Ter | |
| NM_001354304.2:c.676C>T | NP_001341233.1:p.Gln226Ter |