Linked Data
dbSNP Id:
rs202074496
ExAC:
12:21329751 A / C
gnomAD v2:
12-21329751-A-C
gnomAD v3:
12-21176817-A-C
gnomAD v4:
12-21176817-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176817A>C , CM000674.2:g.21176817A>C | GRCh38 |
| NC_000012.11:g.21329751A>C , CM000674.1:g.21329751A>C | GRCh37 |
| NC_000012.10:g.21221018A>C | NCBI36 |
| NG_011745.1:g.50624A>C , LRG_1022:g.50624A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.401A>C MANE Select | ENSP00000256958.2:p.Asn134Thr | |
| ENST00000256958.2:c.401A>C | ENSP00000256958.2:p.Asn134Thr | |
| ENST00000543498.5:c.467A>C | ||
| NM_006446.4:c.401A>C , LRG_1022t1:c.401A>C | NP_006437.3:p.Asn134Thr | |
| NM_006446.5:c.401A>C MANE Select | NP_006437.3:p.Asn134Thr |