Linked Data
ClinVar Variation Id:
1483535
ClinVar RCV Id:
RCV003657588
dbSNP Id:
rs199473279
gnomAD v3:
3-38554303-C-A
gnomAD v4:
3-38554303-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38554303C>A , CM000665.2:g.38554303C>A | GRCh38 |
| NC_000003.11:g.38595794C>A , CM000665.1:g.38595794C>A | GRCh37 |
| NC_000003.10:g.38570798C>A | NCBI36 |
| NG_008934.1:g.100370G>T , LRG_289:g.100370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.4786G>T | ENSP00000333674.7:p.Val1596Leu | |
| ENST00000333535.9:c.4789G>T | ENSP00000328968.4:p.Val1597Leu | |
| ENST00000413689.6:c.4789G>T MANE Plus Clinical | ENSP00000410257.1:p.Val1597Leu | |
| ENST00000423572.7:c.4786G>T MANE Select | ENSP00000398266.2:p.Val1596Leu | |
| ENST00000333535.8:c.4789G>T | ENSP00000328968.4:p.Val1597Leu | |
| ENST00000413689.5:c.4789G>T | ENSP00000410257.1:p.Val1597Leu | |
| ENST00000414099.6:c.4735G>T | ENSP00000398962.2:p.Val1579Leu | |
| ENST00000423572.6:c.4786G>T | ENSP00000398266.2:p.Val1596Leu | |
| ENST00000425664.5:c.4735G>T | ENSP00000416634.1:p.Val1579Leu | |
| ENST00000449557.6:c.4627G>T | ENSP00000413996.2:p.Val1543Leu | |
| ENST00000450102.6:c.4627G>T | ENSP00000403355.2:p.Val1543Leu | |
| ENST00000451551.6:c.4627G>T | ENSP00000388797.2:p.Val1543Leu | |
| ENST00000455624.6:c.4714+72G>T | ENSP00000399524.2:n.4714+72G>T | |
| ENST00000464652.1:n.247G>T | ||
| NM_000335.4:c.4786G>T , LRG_289t2:c.4786G>T | NP_000326.2:p.Val1596Leu | |
| NM_001099404.1:c.4789G>T , LRG_289t3:c.4789G>T | NP_001092874.1:p.Val1597Leu | |
| NM_001099405.1:c.4735G>T | NP_001092875.1:p.Val1579Leu | |
| NM_001160160.1:c.4714+72G>T | NP_001153632.1:n.4714+72G>T | |
| NM_001160161.1:c.4627G>T | NP_001153633.1:p.Val1543Leu | |
| NM_198056.2:c.4789G>T , LRG_289t1:c.4789G>T | NP_932173.1:p.Val1597Leu | |
| XM_006713282.2:c.4789G>T | XP_006713345.1:p.Val1597Leu | |
| XM_011533991.1:c.4786G>T | XP_011532293.1:p.Val1596Leu | |
| XM_011533992.1:c.4660G>T | XP_011532294.1:p.Val1554Leu | |
| NM_001354701.1:c.4732G>T | NP_001341630.1:p.Val1578Leu | |
| XM_011533991.2:c.4786G>T | XP_011532293.1:p.Val1596Leu | |
| XM_017007017.1:c.4627G>T | XP_016862506.1:p.Val1543Leu | |
| NM_000335.5:c.4786G>T MANE Select | NP_000326.2:p.Val1596Leu | |
| NM_001160160.2:c.4714+72G>T | NP_001153632.1:n.4714+72G>T | |
| NM_001354701.2:c.4732G>T | NP_001341630.1:p.Val1578Leu | |
| NM_001099404.2:c.4789G>T MANE Plus Clinical | NP_001092874.1:p.Val1597Leu | |
| NM_001099405.2:c.4735G>T | NP_001092875.1:p.Val1579Leu | |
| NM_001160161.2:c.4627G>T | NP_001153633.1:p.Val1543Leu | |
| NM_198056.3:c.4789G>T | NP_932173.1:p.Val1597Leu |