Linked Data
ClinVar Variation Id:
1349629
dbSNP Id:
rs944503745
gnomAD v3:
3-8745721-G-C
gnomAD v4:
3-8745721-G-C
COSMIC:
COSM3674049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745721G>C , CM000665.2:g.8745721G>C | GRCh38 |
| NC_000003.11:g.8787407G>C , CM000665.1:g.8787407G>C | GRCh37 |
| NC_000003.10:g.8762407G>C | NCBI36 |
| NG_008797.2:g.16912G>C , LRG_329:g.16912G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.310G>C MANE Select | ENSP00000341940.2:p.Val104Leu | |
| ENST00000343849.2:c.310G>C | ENSP00000341940.2:p.Val104Leu | |
| ENST00000397368.2:c.310G>C | ENSP00000380525.2:p.Val104Leu | |
| ENST00000472766.1:n.155+11731G>C | ||
| NM_001234.4:c.310G>C | NP_001225.1:p.Val104Leu | |
| NM_033337.2:c.310G>C , LRG_329t1:c.310G>C | NP_203123.1:p.Val104Leu | |
| NM_001234.5:c.310G>C | NP_001225.1:p.Val104Leu | |
| NM_033337.3:c.310G>C MANE Select | NP_203123.1:p.Val104Leu |