Linked Data
dbSNP Id:
rs1659961627
gnomAD v4:
1-229432274-G-A
MyVariant Identifiers:
chr1:g.229568021G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432274G>A , CM000663.2:g.229432274G>A | GRCh38 |
| NC_000001.10:g.229568021G>A , CM000663.1:g.229568021G>A | GRCh37 |
| NC_000001.9:g.227634644G>A | NCBI36 |
| NG_006672.1:g.6823C>T , LRG_429:g.6823C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.612C>T | ENSP00000355644.4:p.Thr204= | |
| ENST00000684723.1:c.477C>T | ENSP00000508084.1:p.Thr159= | |
| ENST00000366683.3:c.479+133C>T | ENSP00000355644.3:n.479+133C>T | |
| ENST00000366684.7:c.612C>T MANE Select | ENSP00000355645.3:p.Thr204= | |
| NM_001100.3:c.612C>T , LRG_429t1:c.612C>T | NP_001091.1:p.Thr204= | |
| NM_001100.4:c.612C>T MANE Select | NP_001091.1:p.Thr204= |