Linked Data
ClinVar Variation Id:
1800884
dbSNP Id:
rs1010302320
gnomAD v2:
7-44184868-C-A
gnomAD v3:
7-44145269-C-A
gnomAD v4:
7-44145269-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145269C>A , CM000669.2:g.44145269C>A | GRCh38 |
| NC_000007.13:g.44184868C>A , CM000669.1:g.44184868C>A | GRCh37 |
| NC_000007.12:g.44151393C>A | NCBI36 |
| NG_008847.1:g.49155G>T | |
| NG_008847.2:g.57902G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1263G>T | ENSP00000379142.4:n.*1263G>T | |
| ENST00000616242.5:c.*385G>T | ENSP00000482149.2:n.*385G>T | |
| ENST00000683378.1:n.491G>T | ||
| ENST00000336642.9:c.299G>T | ENSP00000338009.5:p.Arg100Leu | |
| ENST00000345378.7:c.1268G>T | ENSP00000223366.2:p.Arg423Leu | |
| ENST00000403799.8:c.1265G>T MANE Select | ENSP00000384247.3:p.Arg422Leu | |
| ENST00000671824.1:c.1328G>T | ENSP00000500264.1:p.Arg443Leu | |
| ENST00000672743.1:n.277G>T | ||
| ENST00000673284.1:c.1265G>T | ENSP00000499852.1:p.Arg422Leu | |
| ENST00000336642.8:c.317G>T | ENSP00000338009.4:p.Arg106Leu | |
| ENST00000345378.6:c.1268G>T | ENSP00000223366.2:p.Arg423Leu | |
| ENST00000395796.7:c.1262G>T | ENSP00000379142.3:p.Arg421Leu | |
| ENST00000403799.7:c.1265G>T | ENSP00000384247.3:p.Arg422Leu | |
| ENST00000437084.1:c.1214G>T | ENSP00000402840.1:p.Arg405Leu | |
| ENST00000459642.1:n.645G>T | ||
| ENST00000616242.4:c.1262G>T | ENSP00000482149.1:p.Arg421Leu | |
| NM_000162.3:c.1265G>T | NP_000153.1:p.Arg422Leu | |
| NM_033507.1:c.1268G>T | NP_277042.1:p.Arg423Leu | |
| NM_033508.1:c.1262G>T | NP_277043.1:p.Arg421Leu | |
| NM_000162.4:c.1265G>T | NP_000153.1:p.Arg422Leu | |
| NM_001354800.1:c.1265G>T | NP_001341729.1:p.Arg422Leu | |
| NM_001354801.1:c.254G>T | NP_001341730.1:p.Arg85Leu | |
| NM_001354802.1:c.125G>T | NP_001341731.1:p.Arg42Leu | |
| NM_001354803.1:c.299G>T | NP_001341732.1:p.Arg100Leu | |
| NM_033507.2:c.1268G>T | NP_277042.1:p.Arg423Leu | |
| NM_033508.2:c.1262G>T | NP_277043.1:p.Arg421Leu | |
| XM_024446707.1:c.125G>T | XP_024302475.1:p.Arg42Leu | |
| NM_000162.5:c.1265G>T MANE Select | NP_000153.1:p.Arg422Leu | |
| NM_033507.3:c.1268G>T | NP_277042.1:p.Arg423Leu | |
| NM_033508.3:c.1262G>T | NP_277043.1:p.Arg421Leu | |
| NM_001354803.2:c.299G>T | NP_001341732.1:p.Arg100Leu |