Linked Data
dbSNP Id:
rs2136795224
gnomAD v4:
12-56088080-C-G
MyVariant Identifiers:
chr12:g.56481864C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56088080C>G , CM000674.2:g.56088080C>G | GRCh38 |
| NC_000012.11:g.56481864C>G , CM000674.1:g.56481864C>G | GRCh37 |
| NC_000012.10:g.54768131C>G | NCBI36 |
| NG_011529.1:g.12973C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682431.1:n.951C>G | ||
| ENST00000683018.1:c.615C>G | ENSP00000506822.1:p.Val205= | |
| ENST00000683059.1:c.615C>G | ENSP00000507402.1:p.Val205= | |
| ENST00000683164.1:c.615C>G | ENSP00000508051.1:p.Val205= | |
| ENST00000683653.1:n.746C>G | ||
| ENST00000684500.1:n.921C>G | ||
| ENST00000267101.8:c.792C>G MANE Select | ENSP00000267101.4:p.Val264= | |
| ENST00000267101.7:c.792C>G | ENSP00000267101.3:p.Val264= | |
| ENST00000415288.6:c.615C>G | ENSP00000408340.2:p.Val205= | |
| ENST00000546748.1:n.257C>G | ||
| ENST00000550869.5:c.25-6401C>G | ENSP00000448671.1:n.25-6401C>G | |
| ENST00000551085.5:c.792C>G | ENSP00000448483.1:p.Val264= | |
| ENST00000551242.5:c.792C>G | ENSP00000447510.1:p.Val264= | |
| NM_001982.3:c.792C>G | NP_001973.2:p.Val264= | |
| NM_001982.4:c.792C>G MANE Select | NP_001973.2:p.Val264= |