Linked Data
dbSNP Id:
rs1555132636
gnomAD v4:
12-6870359-G-A
MyVariant Identifiers:
chr12:g.6979523G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870359G>A , CM000674.2:g.6870359G>A | GRCh38 |
| NC_000012.11:g.6979523G>A , CM000674.1:g.6979523G>A | GRCh37 |
| NC_000012.10:g.6849784G>A | NCBI36 |
| NG_011948.1:g.7940G>A | |
| NG_013308.1:g.7999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.726G>A MANE Select | ENSP00000379933.4:p.Val242= | |
| ENST00000229270.8:c.837G>A | ENSP00000229270.4:p.Val279= | |
| ENST00000396705.9:c.726G>A | ENSP00000379933.4:p.Val242= | |
| ENST00000474253.1:n.215G>A | ||
| ENST00000488464.6:c.480G>A | ENSP00000475620.1:p.Val160= | |
| ENST00000535434.5:c.480G>A | ENSP00000443599.1:p.Val160= | |
| ENST00000613953.4:c.837G>A | ENSP00000484435.1:p.Val279= | |
| NM_000365.5:c.726G>A | NP_000356.1:p.Val242= | |
| NM_001159287.1:c.837G>A | NP_001152759.1:p.Val279= | |
| NM_001258026.1:c.480G>A | NP_001244955.1:p.Val160= | |
| XR_002957378.1:n.1734G>A | ||
| NM_000365.6:c.726G>A MANE Select | NP_000356.1:p.Val242= | |
| NM_001258026.2:c.480G>A | NP_001244955.1:p.Val160= |