Linked Data
ClinVar Variation Id:
213841
dbSNP Id:
rs863223790
gnomAD v3:
1-218434154-G-T
gnomAD v4:
1-218434154-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218434154G>T , CM000663.2:g.218434154G>T | GRCh38 |
| NC_000001.10:g.218607496G>T , CM000663.1:g.218607496G>T | GRCh37 |
| NC_000001.9:g.216674119G>T | NCBI36 |
| NG_027721.1:g.93821G>T | |
| NG_027721.2:g.93821G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.583G>T MANE Select | ENSP00000355897.4:p.Glu195Ter | |
| ENST00000366929.4:c.667G>T | ENSP00000355896.4:p.Glu223Ter | |
| ENST00000366930.8:c.583G>T | ENSP00000355897.4:p.Glu195Ter | |
| ENST00000479322.1:n.29G>T | ||
| ENST00000488793.1:n.247G>T | ||
| NM_001135599.2:c.667G>T | NP_001129071.1:p.Glu223Ter | |
| NM_003238.3:c.583G>T | NP_003229.1:p.Glu195Ter | |
| NM_001135599.3:c.667G>T | NP_001129071.1:p.Glu223Ter | |
| NM_003238.4:c.583G>T | NP_003229.1:p.Glu195Ter | |
| NR_138148.1:n.2001G>T | ||
| NR_138149.1:n.2085G>T | ||
| NM_003238.5:c.583G>T | NP_003229.1:p.Glu195Ter | |
| NM_003238.6:c.583G>T MANE Select | NP_003229.1:p.Glu195Ter | |
| NM_001135599.4:c.667G>T | NP_001129071.1:p.Glu223Ter | |
| NR_138148.2:n.1949G>T | ||
| NR_138149.2:n.2033G>T |