Linked Data
dbSNP Id:
rs757702443
ExAC:
12:53069206 C / T
gnomAD v2:
12-53069206-C-T
gnomAD v3:
12-52675422-C-T
gnomAD v4:
12-52675422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675422C>T , CM000674.2:g.52675422C>T | GRCh38 |
| NC_000012.11:g.53069206C>T , CM000674.1:g.53069206C>T | GRCh37 |
| NC_000012.10:g.51355473C>T | NCBI36 |
| NG_008364.1:g.9986G>A | |
| NG_008364.2:g.9986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1706G>A MANE Select | ENSP00000252244.3:p.Gly569Glu | |
| NM_006121.3:c.1706G>A | NP_006112.3:p.Gly569Glu | |
| NM_006121.4:c.1706G>A MANE Select | NP_006112.3:p.Gly569Glu |