Linked Data
ClinVar Variation Id:
78
dbSNP Id:
rs267607218
gnomAD v2:
10-90983467-C-A
gnomAD v3:
10-89223710-C-A
gnomAD v4:
10-89223710-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89223710C>A , CM000672.2:g.89223710C>A | GRCh38 |
| NC_000010.10:g.90983467C>A , CM000672.1:g.90983467C>A | GRCh37 |
| NC_000010.9:g.90973447C>A | NCBI36 |
| NG_008194.1:g.33194G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.796G>T MANE Select | ENSP00000337354.5:p.Gly266Ter | |
| ENST00000336233.9:c.796G>T | ENSP00000337354.5:p.Gly266Ter | |
| ENST00000371837.5:c.628G>T | ENSP00000360903.1:p.Gly210Ter | |
| ENST00000428800.5:c.796G>T | ENSP00000388415.1:p.Gly266Ter | |
| ENST00000456827.5:c.448G>T | ENSP00000413019.2:p.Gly150Ter | |
| NM_000235.3:c.796G>T | NP_000226.2:p.Gly266Ter | |
| NM_001127605.2:c.796G>T | NP_001121077.1:p.Gly266Ter | |
| NM_001288979.1:c.448G>T | NP_001275908.1:p.Gly150Ter | |
| XM_024448023.1:c.796G>T | XP_024303791.1:p.Gly266Ter | |
| NM_000235.4:c.796G>T MANE Select | NP_000226.2:p.Gly266Ter | |
| NM_001127605.3:c.796G>T | NP_001121077.1:p.Gly266Ter | |
| NM_001288979.2:c.448G>T | NP_001275908.1:p.Gly150Ter |