Linked Data
dbSNP Id:
rs12317268
gnomAD v2:
12-21352541-A-G
gnomAD v3:
12-21199607-A-G
gnomAD v4:
12-21199607-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21199607A>G , CM000674.2:g.21199607A>G | GRCh38 |
| NC_000012.11:g.21352541A>G , CM000674.1:g.21352541A>G | GRCh37 |
| NC_000012.10:g.21243808A>G | NCBI36 |
| NG_011745.1:g.73414A>G , LRG_1022:g.73414A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.971-901A>G MANE Select | ENSP00000256958.2:n.971-901A>G | |
| ENST00000256958.2:c.971-901A>G | ENSP00000256958.2:n.971-901A>G | |
| NM_006446.4:c.971-901A>G , LRG_1022t1:c.971-901A>G | NP_006437.3:n.971-901A>G | |
| NM_006446.5:c.971-901A>G MANE Select | NP_006437.3:n.971-901A>G |