Linked Data
ClinVar Variation Id:
1338685
ClinVar RCV Id:
RCV001818056
dbSNP Id:
rs1415041911
gnomAD v3:
7-44145630-C-G
gnomAD v4:
7-44145630-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145630C>G , CM000669.2:g.44145630C>G | GRCh38 |
| NC_000007.13:g.44185229C>G , CM000669.1:g.44185229C>G | GRCh37 |
| NC_000007.12:g.44151754C>G | NCBI36 |
| NG_008847.1:g.48794G>C | |
| NG_008847.2:g.57541G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1118G>C | ENSP00000379142.4:n.*1118G>C | |
| ENST00000616242.5:c.*240G>C | ENSP00000482149.2:n.*240G>C | |
| ENST00000683378.1:n.346G>C | ||
| ENST00000336642.9:c.154G>C | ENSP00000338009.5:p.Val52Leu | |
| ENST00000345378.7:c.1123G>C | ENSP00000223366.2:p.Val375Leu | |
| ENST00000403799.8:c.1120G>C MANE Select | ENSP00000384247.3:p.Val374Leu | |
| ENST00000671824.1:c.1183G>C | ENSP00000500264.1:p.Val395Leu | |
| ENST00000672743.1:n.132G>C | ||
| ENST00000673284.1:c.1120G>C | ENSP00000499852.1:p.Val374Leu | |
| ENST00000336642.8:c.172G>C | ENSP00000338009.4:p.Val58Leu | |
| ENST00000345378.6:c.1123G>C | ENSP00000223366.2:p.Val375Leu | |
| ENST00000395796.7:c.1117G>C | ENSP00000379142.3:p.Val373Leu | |
| ENST00000403799.7:c.1120G>C | ENSP00000384247.3:p.Val374Leu | |
| ENST00000437084.1:c.1069G>C | ENSP00000402840.1:p.Val357Leu | |
| ENST00000459642.1:n.500G>C | ||
| ENST00000616242.4:c.1117G>C | ENSP00000482149.1:p.Val373Leu | |
| NM_000162.3:c.1120G>C | NP_000153.1:p.Val374Leu | |
| NM_033507.1:c.1123G>C | NP_277042.1:p.Val375Leu | |
| NM_033508.1:c.1117G>C | NP_277043.1:p.Val373Leu | |
| NM_000162.4:c.1120G>C | NP_000153.1:p.Val374Leu | |
| NM_001354800.1:c.1120G>C | NP_001341729.1:p.Val374Leu | |
| NM_001354801.1:c.109G>C | NP_001341730.1:p.Val37Leu | |
| NM_001354802.1:c.-21G>C | NP_001341731.1:n.-21G>C | |
| NM_001354803.1:c.154G>C | NP_001341732.1:p.Val52Leu | |
| NM_033507.2:c.1123G>C | NP_277042.1:p.Val375Leu | |
| NM_033508.2:c.1117G>C | NP_277043.1:p.Val373Leu | |
| XM_024446707.1:c.-21G>C | XP_024302475.1:n.-21G>C | |
| NM_000162.5:c.1120G>C MANE Select | NP_000153.1:p.Val374Leu | |
| NM_033507.3:c.1123G>C | NP_277042.1:p.Val375Leu | |
| NM_033508.3:c.1117G>C | NP_277043.1:p.Val373Leu | |
| NM_001354803.2:c.154G>C | NP_001341732.1:p.Val52Leu |