Linked Data
dbSNP Id:
rs12829704
gnomAD v2:
12-21388621-G-A
gnomAD v3:
12-21235687-G-A
gnomAD v4:
12-21235687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21235687G>A , CM000674.2:g.21235687G>A | GRCh38 |
| NC_000012.11:g.21388621G>A , CM000674.1:g.21388621G>A | GRCh37 |
| NC_000012.10:g.21279888G>A | NCBI36 |
| NG_011745.1:g.109494G>A , LRG_1022:g.109494G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.1866-3292G>A MANE Select | ENSP00000256958.2:n.1866-3292G>A | |
| ENST00000256958.2:c.1866-3292G>A | ENSP00000256958.2:n.1866-3292G>A | |
| NM_006446.4:c.1866-3292G>A , LRG_1022t1:c.1866-3292G>A | NP_006437.3:n.1866-3292G>A | |
| NM_006446.5:c.1866-3292G>A MANE Select | NP_006437.3:n.1866-3292G>A |