MyVariant.info:
GRCh37
chr12:g.49333453G>A
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48939670G>A , CM000674.2:g.48939670G>A | GRCh38 |
| NC_000012.11:g.49333453G>A , CM000674.1:g.49333453G>A | GRCh37 |
| NC_000012.10:g.47619720G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256682.9:c.369C>T MANE Select | ENSP00000256682.4:p.Val123= | |
| ENST00000256682.8:c.369C>T | ENSP00000256682.4:p.Val123= | |
| ENST00000398092.4:c.369C>T | ENSP00000438507.1:p.Val123= | |
| ENST00000447318.6:c.258C>T | ENSP00000395370.2:p.Val86= | |
| ENST00000485410.5:n.137-823C>T | ||
| ENST00000541959.5:c.369C>T | ENSP00000438510.1:p.Val123= | |
| NM_001659.2:c.369C>T | NP_001650.1:p.Val123= | |
| XM_005268856.1:c.369C>T | XP_005268913.1:p.Val123= | |
| XM_006719391.2:c.369C>T | XP_006719454.1:p.Val123= | |
| XM_011538322.1:c.369C>T | XP_011536624.1:p.Val123= | |
| XM_011538323.1:c.369C>T | XP_011536625.1:p.Val123= | |
| XM_006719391.4:c.369C>T | XP_006719454.1:p.Val123= | |
| XM_024448972.1:c.369C>T | XP_024304740.1:p.Val123= | |
| NM_001659.3:c.369C>T MANE Select | NP_001650.1:p.Val123= |