Linked Data
ClinVar Variation Id:
304788
dbSNP Id:
rs35214605
ExAC:
11:45935689 C / G
gnomAD v2:
11-45935689-C-G
gnomAD v3:
11-45914138-C-G
gnomAD v4:
11-45914138-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914138C>G , CM000673.2:g.45914138C>G | GRCh38 |
| NC_000011.9:g.45935689C>G , CM000673.1:g.45935689C>G | GRCh37 |
| NC_000011.8:g.45892265C>G | NCBI36 |
| NG_008460.1:g.8986G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.760G>C MANE Select | ENSP00000368024.5:p.Val254Leu | |
| ENST00000241041.7:c.760G>C | ENSP00000241041.3:p.Val254Leu | |
| ENST00000378750.9:c.760G>C | ENSP00000368024.5:p.Val254Leu | |
| ENST00000525192.5:c.475G>C | ENSP00000431309.1:p.Val159Leu | |
| ENST00000532554.5:n.531G>C | ||
| ENST00000532681.5:c.475G>C | ENSP00000434654.1:p.Val159Leu | |
| ENST00000533151.5:c.448G>C | ENSP00000433045.1:p.Val150Leu | |
| NM_004813.2:c.760G>C | NP_004804.1:p.Val254Leu | |
| NM_057174.2:c.760G>C | NP_476515.1:p.Val254Leu | |
| XM_011520474.1:c.637G>C | XP_011518776.1:p.Val213Leu | |
| NM_004813.3:c.760G>C | NP_004804.1:p.Val254Leu | |
| NM_004813.4:c.760G>C MANE Select | NP_004804.2:p.Val254Leu | |
| NM_057174.3:c.760G>C | NP_476515.2:p.Val254Leu |