Linked Data
dbSNP Id:
rs746018460
ExAC:
12:21329818 G / T
gnomAD v2:
12-21329818-G-T
gnomAD v4:
12-21176884-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176884G>T , CM000674.2:g.21176884G>T | GRCh38 |
| NC_000012.11:g.21329818G>T , CM000674.1:g.21329818G>T | GRCh37 |
| NC_000012.10:g.21221085G>T | NCBI36 |
| NG_011745.1:g.50691G>T , LRG_1022:g.50691G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.468G>T MANE Select | ENSP00000256958.2:p.Glu156Asp | |
| ENST00000256958.2:c.468G>T | ENSP00000256958.2:p.Glu156Asp | |
| ENST00000543498.5:c.534G>T | ||
| NM_006446.4:c.468G>T , LRG_1022t1:c.468G>T | NP_006437.3:p.Glu156Asp | |
| NM_006446.5:c.468G>T MANE Select | NP_006437.3:p.Glu156Asp |