Linked Data
ClinVar Variation Id:
289666
dbSNP Id:
rs143827025
ExAC:
17:1673263 G / C
gnomAD v2:
17-1673263-G-C
gnomAD v3:
17-1769969-G-C
gnomAD v4:
17-1769969-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1769969G>C , CM000679.2:g.1769969G>C | GRCh38 |
| NC_000017.10:g.1673263G>C , CM000679.1:g.1673263G>C | GRCh37 |
| NC_000017.9:g.1620013G>C | NCBI36 |
| NG_028180.1:g.13005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.202G>C MANE Select | ENSP00000254722.4:p.Val68Leu | |
| ENST00000254722.8:c.202G>C | ENSP00000254722.4:p.Val68Leu | |
| ENST00000570731.5:c.202G>C | ENSP00000459869.1:p.Val68Leu | |
| ENST00000571149.5:c.202G>C | ENSP00000460905.1:p.Val68Leu | |
| ENST00000571360.5:c.163G>C | ENSP00000461660.1:p.Val55Leu | |
| ENST00000571870.5:n.443G>C | ||
| ENST00000573770.5:c.202G>C | ENSP00000459107.1:p.Val68Leu | |
| ENST00000576406.5:c.-360G>C | ENSP00000461214.1:n.-360G>C | |
| ENST00000577053.1:c.202G>C | ENSP00000460842.1:p.Val68Leu | |
| NM_002615.5:c.202G>C | NP_002606.3:p.Val68Leu | |
| NM_001329903.1:c.202G>C | NP_001316832.1:p.Val68Leu | |
| NM_001329904.1:c.-360G>C | NP_001316833.1:n.-360G>C | |
| NM_002615.6:c.202G>C | NP_002606.3:p.Val68Leu | |
| NM_002615.7:c.202G>C MANE Select | NP_002606.3:p.Val68Leu | |
| NM_001329903.2:c.202G>C | NP_001316832.1:p.Val68Leu | |
| NM_001329904.2:c.-360G>C | NP_001316833.1:n.-360G>C |