Linked Data
dbSNP Id:
rs191001208
gnomAD v2:
12-21368206-G-A
gnomAD v3:
12-21215272-G-A
gnomAD v4:
12-21215272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21215272G>A , CM000674.2:g.21215272G>A | GRCh38 |
| NC_000012.11:g.21368206G>A , CM000674.1:g.21368206G>A | GRCh37 |
| NC_000012.10:g.21259473G>A | NCBI36 |
| NG_011745.1:g.89079G>A , LRG_1022:g.89079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1498-1847G>A MANE Select | ENSP00000256958.2:n.1498-1847G>A | |
| ENST00000256958.2:c.1498-1847G>A | ENSP00000256958.2:n.1498-1847G>A | |
| NM_006446.4:c.1498-1847G>A , LRG_1022t1:c.1498-1847G>A | NP_006437.3:n.1498-1847G>A | |
| NM_006446.5:c.1498-1847G>A MANE Select | NP_006437.3:n.1498-1847G>A |