Linked Data
dbSNP Id:
rs767161830
ExAC:
12:52827633 C / T
gnomAD v2:
12-52827633-C-T
gnomAD v4:
12-52433849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433849C>T , CM000674.2:g.52433849C>T | GRCh38 |
| NC_000012.11:g.52827633C>T , CM000674.1:g.52827633C>T | GRCh37 |
| NC_000012.10:g.51113900C>T | NCBI36 |
| NG_008403.1:g.5478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.456G>A MANE Select | ENSP00000252245.5:p.Gln152= | |
| ENST00000252245.5:c.456G>A | ENSP00000252245.5:p.Gln152= | |
| NM_004693.2:c.456G>A | NP_004684.2:p.Gln152= | |
| NM_004693.3:c.456G>A MANE Select | NP_004684.2:p.Gln152= |