Linked Data
dbSNP Id:
rs1335411501
ExAC:
12:21327584 T / A
gnomAD v2:
12-21327584-T-A
gnomAD v3:
12-21174650-T-A
gnomAD v4:
12-21174650-T-A
MyVariant Identifiers:
chr12:g.21327584T>A (hg19)
chr12:g.21327584_21327586delinsATG (hg19)
chr12:g.21174650T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174650T>A , CM000674.2:g.21174650T>A | GRCh38 |
| NC_000012.11:g.21327584T>A , CM000674.1:g.21327584T>A | GRCh37 |
| NC_000012.10:g.21218851T>A | NCBI36 |
| NG_011745.1:g.48457T>A , LRG_1022:g.48457T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.300T>A MANE Select | ENSP00000256958.2:p.Gly100= | |
| ENST00000256958.2:c.300T>A | ENSP00000256958.2:p.Gly100= | |
| ENST00000543498.5:c.426-2126T>A | ||
| NM_006446.4:c.300T>A , LRG_1022t1:c.300T>A | NP_006437.3:p.Gly100= | |
| NM_006446.5:c.300T>A MANE Select | NP_006437.3:p.Gly100= |