Linked Data
ClinVar Variation Id:
2715531
ClinVar RCV Id:
RCV003553367
gnomAD v4:
12-45331363-A-C
MyVariant Identifiers:
chr12:g.45725146A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45331363A>C , CM000674.2:g.45331363A>C | GRCh38 |
| NC_000012.11:g.45725146A>C , CM000674.1:g.45725146A>C | GRCh37 |
| NC_000012.10:g.44011413A>C | NCBI36 |
| NG_028220.1:g.120377A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.219A>C MANE Select | ENSP00000320087.8:p.Leu73= | |
| ENST00000679426.1:c.186A>C | ENSP00000506600.1:p.Leu62= | |
| ENST00000679761.1:c.219A>C | ENSP00000505361.1:p.Leu73= | |
| ENST00000680201.1:c.219A>C | ENSP00000506222.1:p.Leu73= | |
| ENST00000680371.1:c.219A>C | ENSP00000506392.1:p.Leu73= | |
| ENST00000680498.1:c.-199A>C | ENSP00000506613.1:n.-199A>C | |
| ENST00000681156.1:c.219A>C | ENSP00000506069.1:p.Leu73= | |
| ENST00000681817.1:c.-199A>C | ENSP00000506683.1:n.-199A>C | |
| ENST00000320560.12:c.219A>C | ENSP00000320087.8:p.Leu73= | |
| ENST00000423947.7:c.282A>C | ENSP00000409126.3:p.Leu94= | |
| ENST00000425752.6:c.219A>C | ENSP00000391417.2:p.Leu73= | |
| ENST00000426898.2:n.474A>C | ||
| ENST00000441606.2:c.165A>C | ENSP00000413137.2:p.Leu55= | |
| NM_001025356.2:c.219A>C | NP_001020527.2:p.Leu73= | |
| NM_001142678.1:c.165A>C | NP_001136150.1:p.Leu55= | |
| NM_001142679.1:c.219A>C | NP_001136151.1:p.Leu73= | |
| NM_001204803.1:c.282A>C | NP_001191732.1:p.Leu94= | |
| XM_005268706.3:c.186A>C | XP_005268763.1:p.Leu62= | |
| XM_005268707.2:c.120A>C | XP_005268764.1:p.Leu40= | |
| XM_011538024.1:c.282A>C | XP_011536326.1:p.Leu94= | |
| XM_005268706.5:c.186A>C | XP_005268763.1:p.Leu62= | |
| XM_005268707.4:c.120A>C | XP_005268764.1:p.Leu40= | |
| NM_001025356.3:c.219A>C MANE Select | NP_001020527.2:p.Leu73= | |
| NM_001142678.2:c.165A>C | NP_001136150.1:p.Leu55= | |
| NM_001142679.2:c.219A>C | NP_001136151.1:p.Leu73= | |
| NM_001204803.2:c.282A>C | NP_001191732.1:p.Leu94= |