Linked Data
ClinVar Variation Id:
1771481
ClinVar RCV Id:
RCV002396615
dbSNP Id:
rs2096270349
gnomAD v3:
7-44145145-C-T
gnomAD v4:
7-44145145-C-T
MyVariant Identifiers:
chr7:g.44184744C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145145C>T , CM000669.2:g.44145145C>T | GRCh38 |
| NC_000007.13:g.44184744C>T , CM000669.1:g.44184744C>T | GRCh37 |
| NC_000007.12:g.44151269C>T | NCBI36 |
| NG_008847.1:g.49279G>A | |
| NG_008847.2:g.58026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1387G>A | ENSP00000379142.4:n.*1387G>A | |
| ENST00000616242.5:c.*509G>A | ENSP00000482149.2:n.*509G>A | |
| ENST00000683378.1:n.615G>A | ||
| ENST00000336642.9:c.423G>A | ENSP00000338009.5:p.Leu141= | |
| ENST00000345378.7:c.1392G>A | ENSP00000223366.2:p.Leu464= | |
| ENST00000403799.8:c.1389G>A MANE Select | ENSP00000384247.3:p.Leu463= | |
| ENST00000671824.1:c.1452G>A | ENSP00000500264.1:p.Leu484= | |
| ENST00000672743.1:n.381+20G>A | ||
| ENST00000673284.1:c.1369+20G>A | ENSP00000499852.1:n.1369+20G>A | |
| ENST00000336642.8:c.441G>A | ENSP00000338009.4:p.Leu147= | |
| ENST00000345378.6:c.1392G>A | ENSP00000223366.2:p.Leu464= | |
| ENST00000395796.7:c.1386G>A | ENSP00000379142.3:p.Leu462= | |
| ENST00000403799.7:c.1389G>A | ENSP00000384247.3:p.Leu463= | |
| ENST00000437084.1:c.1338G>A | ENSP00000402840.1:p.Leu446= | |
| ENST00000459642.1:n.769G>A | ||
| ENST00000616242.4:c.1386G>A | ENSP00000482149.1:p.Leu462= | |
| NM_000162.3:c.1389G>A | NP_000153.1:p.Leu463= | |
| NM_033507.1:c.1392G>A | NP_277042.1:p.Leu464= | |
| NM_033508.1:c.1386G>A | NP_277043.1:p.Leu462= | |
| NM_000162.4:c.1389G>A | NP_000153.1:p.Leu463= | |
| NM_001354800.1:c.1369+20G>A | NP_001341729.1:n.1369+20G>A | |
| NM_001354801.1:c.378G>A | NP_001341730.1:p.Leu126= | |
| NM_001354802.1:c.229+20G>A | NP_001341731.1:n.229+20G>A | |
| NM_001354803.1:c.423G>A | NP_001341732.1:p.Leu141= | |
| NM_033507.2:c.1392G>A | NP_277042.1:p.Leu464= | |
| NM_033508.2:c.1386G>A | NP_277043.1:p.Leu462= | |
| XM_024446707.1:c.249G>A | XP_024302475.1:p.Leu83= | |
| NM_000162.5:c.1389G>A MANE Select | NP_000153.1:p.Leu463= | |
| NM_033507.3:c.1392G>A | NP_277042.1:p.Leu464= | |
| NM_033508.3:c.1386G>A | NP_277043.1:p.Leu462= | |
| NM_001354803.2:c.423G>A | NP_001341732.1:p.Leu141= |