Linked Data
dbSNP Id:
rs2137711713
gnomAD v4:
12-49024869-G-A
MyVariant Identifiers:
chr12:g.49418652G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024869G>A , CM000674.2:g.49024869G>A | GRCh38 |
| NC_000012.11:g.49418652G>A , CM000674.1:g.49418652G>A | GRCh37 |
| NC_000012.10:g.47704919G>A | NCBI36 |
| NG_027827.1:g.35456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.534C>T | ||
| ENST00000683543.2:c.15862C>T | ENSP00000506726.1:p.Leu5288= | |
| ENST00000683863.1:n.1577C>T | ||
| ENST00000684428.1:c.397C>T | ENSP00000507433.1:p.Leu133= | |
| ENST00000684755.1:n.397C>T | ||
| ENST00000685024.1:c.987C>T | ||
| ENST00000685166.1:c.15871C>T | ENSP00000509386.1:p.Leu5291= | |
| ENST00000688411.1:c.339C>T | ENSP00000510146.1:n.339C>T | |
| ENST00000691463.1:c.1248C>T | ENSP00000510624.1:n.1248C>T | |
| ENST00000692637.1:c.15859C>T | ENSP00000509666.1:p.Leu5287= | |
| ENST00000301067.12:c.15862C>T MANE Select | ENSP00000301067.7:p.Leu5288= | |
| ENST00000301067.11:c.15862C>T | ENSP00000301067.7:p.Leu5288= | |
| NM_003482.3:c.15862C>T | NP_003473.3:p.Leu5288= | |
| XM_005269162.3:c.15862C>T | XP_005269219.1:p.Leu5288= | |
| XM_006719614.2:c.15871C>T | XP_006719677.1:p.Leu5291= | |
| XM_006719616.2:c.15859C>T | XP_006719679.1:p.Leu5287= | |
| XM_011538770.1:c.15871C>T | XP_011537072.1:p.Leu5291= | |
| XM_011538771.1:c.15868C>T | XP_011537073.1:p.Leu5290= | |
| XM_011538772.1:c.15862C>T | XP_011537074.1:p.Leu5288= | |
| XM_011538773.1:c.15859C>T | XP_011537075.1:p.Leu5287= | |
| XM_011538774.1:c.15850C>T | XP_011537076.1:p.Leu5284= | |
| XM_011538775.1:c.15805C>T | XP_011537077.1:p.Leu5269= | |
| XM_011538776.1:c.15778C>T | XP_011537078.1:p.Leu5260= | |
| XR_944740.1:n.17050C>T | ||
| XM_005269162.4:c.15862C>T | XP_005269219.1:p.Leu5288= | |
| XM_006719614.4:c.15871C>T | XP_006719677.1:p.Leu5291= | |
| XM_006719616.3:c.15859C>T | XP_006719679.1:p.Leu5287= | |
| XM_011538770.2:c.15871C>T | XP_011537072.1:p.Leu5291= | |
| XM_011538771.2:c.15868C>T | XP_011537073.1:p.Leu5290= | |
| XM_011538772.2:c.15862C>T | XP_011537074.1:p.Leu5288= | |
| XM_011538773.2:c.15859C>T | XP_011537075.1:p.Leu5287= | |
| XM_011538774.2:c.15850C>T | XP_011537076.1:p.Leu5284= | |
| XM_011538776.2:c.15778C>T | XP_011537078.1:p.Leu5260= | |
| XR_001748874.1:n.16039C>T | ||
| NM_003482.4:c.15862C>T MANE Select | NP_003473.3:p.Leu5288= |