Linked Data
dbSNP Id:
rs1565673099
gnomAD v2:
12-21327562-G-A
gnomAD v4:
12-21174628-G-A
MyVariant Identifiers:
chr12:g.21327562G>A (hg19)
chr12:g.21327562_21327563delinsAA (hg19)
chr12:g.21174628G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174628G>A , CM000674.2:g.21174628G>A | GRCh38 |
| NC_000012.11:g.21327562G>A , CM000674.1:g.21327562G>A | GRCh37 |
| NC_000012.10:g.21218829G>A | NCBI36 |
| NG_011745.1:g.48435G>A , LRG_1022:g.48435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.278G>A MANE Select | ENSP00000256958.2:p.Arg93Lys | |
| ENST00000256958.2:c.278G>A | ENSP00000256958.2:p.Arg93Lys | |
| ENST00000543498.5:c.426-2148G>A | ||
| NM_006446.4:c.278G>A , LRG_1022t1:c.278G>A | NP_006437.3:p.Arg93Lys | |
| NM_006446.5:c.278G>A MANE Select | NP_006437.3:p.Arg93Lys |