Linked Data
dbSNP Id:
rs1337181742
gnomAD v2:
6-1610652-G-T
gnomAD v3:
6-1610417-G-T
gnomAD v4:
6-1610417-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610417G>T , CM000668.2:g.1610417G>T | GRCh38 |
| NC_000006.11:g.1610652G>T , CM000668.1:g.1610652G>T | GRCh37 |
| NC_000006.10:g.1555651G>T | NCBI36 |
| NG_009368.1:g.4972G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-29G>T MANE Select | ENSP00000493906.1:n.-29G>T | |
| ENST00000380874.3:c.-29G>T | ENSP00000370256.2:n.-29G>T | |
| NM_001453.3:c.-29G>T MANE Select | NP_001444.2:n.-29G>T |