Linked Data
ClinVar Variation Id:
821437
ClinVar RCV Id:
RCV001015851
dbSNP Id:
rs778436220
ExAC:
12:12871025 G / C
gnomAD v2:
12-12871025-G-C
gnomAD v4:
12-12718091-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718091G>C , CM000674.2:g.12718091G>C | GRCh38 |
| NC_000012.11:g.12871025G>C , CM000674.1:g.12871025G>C | GRCh37 |
| NC_000012.10:g.12762292G>C | NCBI36 |
| NG_016341.1:g.5724G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.252G>C | ENSP00000507272.1:p.Leu84Phe | |
| ENST00000682620.1:n.1631-734G>C | ||
| ENST00000684771.1:n.585-734G>C | ||
| ENST00000228872.9:c.252G>C MANE Select | ENSP00000228872.4:p.Leu84Phe | |
| ENST00000228872.8:c.252G>C | ENSP00000228872.4:p.Leu84Phe | |
| ENST00000396340.1:c.252G>C | ENSP00000379629.1:p.Leu84Phe | |
| ENST00000442489.1:c.193+38G>C | ENSP00000407597.1:n.193+38G>C | |
| ENST00000477087.1:n.155-734G>C | ||
| NM_004064.4:c.252G>C | NP_004055.1:p.Leu84Phe | |
| NM_004064.5:c.252G>C MANE Select | NP_004055.1:p.Leu84Phe |