Linked Data
ClinVar Variation Id:
36185
dbSNP Id:
rs193922269
gnomAD v4:
7-44145575-C-A
ERepo:
CA213733/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145575C>A , CM000669.2:g.44145575C>A | GRCh38 |
| NC_000007.13:g.44185174C>A , CM000669.1:g.44185174C>A | GRCh37 |
| NC_000007.12:g.44151699C>A | NCBI36 |
| NG_008847.1:g.48849G>T | |
| NG_008847.2:g.57596G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1173G>T | ENSP00000379142.4:n.*1173G>T | |
| ENST00000616242.5:c.*295G>T | ENSP00000482149.2:n.*295G>T | |
| ENST00000683378.1:n.401G>T | ||
| ENST00000336642.9:c.209G>T | ENSP00000338009.5:p.Arg70Leu | |
| ENST00000345378.7:c.1178G>T | ENSP00000223366.2:p.Arg393Leu | |
| ENST00000403799.8:c.1175G>T MANE Select | ENSP00000384247.3:p.Arg392Leu | |
| ENST00000671824.1:c.1238G>T | ENSP00000500264.1:p.Arg413Leu | |
| ENST00000672743.1:n.187G>T | ||
| ENST00000673284.1:c.1175G>T | ENSP00000499852.1:p.Arg392Leu | |
| ENST00000336642.8:c.227G>T | ENSP00000338009.4:p.Arg76Leu | |
| ENST00000345378.6:c.1178G>T | ENSP00000223366.2:p.Arg393Leu | |
| ENST00000395796.7:c.1172G>T | ENSP00000379142.3:p.Arg391Leu | |
| ENST00000403799.7:c.1175G>T | ENSP00000384247.3:p.Arg392Leu | |
| ENST00000437084.1:c.1124G>T | ENSP00000402840.1:p.Arg375Leu | |
| ENST00000459642.1:n.555G>T | ||
| ENST00000616242.4:c.1172G>T | ENSP00000482149.1:p.Arg391Leu | |
| NM_000162.3:c.1175G>T | NP_000153.1:p.Arg392Leu | |
| NM_033507.1:c.1178G>T | NP_277042.1:p.Arg393Leu | |
| NM_033508.1:c.1172G>T | NP_277043.1:p.Arg391Leu | |
| NM_000162.4:c.1175G>T | NP_000153.1:p.Arg392Leu | |
| NM_001354800.1:c.1175G>T | NP_001341729.1:p.Arg392Leu | |
| NM_001354801.1:c.164G>T | NP_001341730.1:p.Arg55Leu | |
| NM_001354802.1:c.35G>T | NP_001341731.1:p.Arg12Leu | |
| NM_001354803.1:c.209G>T | NP_001341732.1:p.Arg70Leu | |
| NM_033507.2:c.1178G>T | NP_277042.1:p.Arg393Leu | |
| NM_033508.2:c.1172G>T | NP_277043.1:p.Arg391Leu | |
| XM_024446707.1:c.35G>T | XP_024302475.1:p.Arg12Leu | |
| NM_000162.5:c.1175G>T MANE Select | NP_000153.1:p.Arg392Leu | |
| NM_033507.3:c.1178G>T | NP_277042.1:p.Arg393Leu | |
| NM_033508.3:c.1172G>T | NP_277043.1:p.Arg391Leu | |
| NM_001354803.2:c.209G>T | NP_001341732.1:p.Arg70Leu |