Linked Data
dbSNP Id:
rs756223113
ExAC:
12:52845447 G / T
gnomAD v2:
12-52845447-G-T
gnomAD v4:
12-52451663-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451663G>T , CM000674.2:g.52451663G>T | GRCh38 |
| NC_000012.11:g.52845447G>T , CM000674.1:g.52845447G>T | GRCh37 |
| NC_000012.10:g.51131714G>T | NCBI36 |
| NG_008299.1:g.5464C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.416C>A MANE Select | ENSP00000252252.3:p.Thr139Asn | |
| ENST00000252252.3:c.416C>A | ENSP00000252252.3:p.Thr139Asn | |
| NM_005555.3:c.416C>A | NP_005546.2:p.Thr139Asn | |
| NM_005555.4:c.416C>A MANE Select | NP_005546.2:p.Thr139Asn |