Linked Data
ClinVar Variation Id:
426047
ClinVar RCV Id:
RCV000488791
dbSNP Id:
rs1085307436
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815806C>A , CM000671.2:g.127815806C>A | GRCh38 |
| NC_000009.11:g.130578085C>A , CM000671.1:g.130578085C>A | GRCh37 |
| NC_000009.10:g.129617906C>A | NCBI36 |
| NG_009551.1:g.43963G>T , LRG_589:g.43963G>T | |
| NG_023245.1:g.17932C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.1307G>T | ENSP00000479015.1:p.Arg436Leu | |
| ENST00000373203.9:c.1853G>T MANE Select | ENSP00000362299.4:p.Arg618Leu | |
| ENST00000344849.4:c.*111G>T | ENSP00000341917.3:n.*111G>T | |
| ENST00000373203.8:c.1853G>T | ENSP00000362299.4:p.Arg618Leu | |
| ENST00000480266.5:c.1307G>T | ENSP00000479015.1:p.Arg436Leu | |
| NM_000118.3:c.*111G>T , LRG_589t1:c.*111G>T | NP_000109.1:n.*111G>T | |
| NM_001114753.2:c.1853G>T , LRG_589t2:c.1853G>T | NP_001108225.1:p.Arg618Leu | |
| NM_001278138.1:c.1307G>T | NP_001265067.1:p.Arg436Leu | |
| NM_001114753.3:c.1853G>T MANE Select | NP_001108225.1:p.Arg618Leu | |
| NM_001278138.2:c.1307G>T | NP_001265067.1:p.Arg436Leu |