Linked Data
dbSNP Id:
rs55901008
ExAC:
12:21353529 T / C
gnomAD v2:
12-21353529-T-C
gnomAD v4:
12-21200595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21200595T>C , CM000674.2:g.21200595T>C | GRCh38 |
| NC_000012.11:g.21353529T>C , CM000674.1:g.21353529T>C | GRCh37 |
| NC_000012.10:g.21244796T>C | NCBI36 |
| NG_011745.1:g.74402T>C , LRG_1022:g.74402T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.1058T>C MANE Select | ENSP00000256958.2:p.Ile353Thr | |
| ENST00000256958.2:c.1058T>C | ENSP00000256958.2:p.Ile353Thr | |
| NM_006446.4:c.1058T>C , LRG_1022t1:c.1058T>C | NP_006437.3:p.Ile353Thr | |
| NM_006446.5:c.1058T>C MANE Select | NP_006437.3:p.Ile353Thr |