Linked Data
ClinVar Variation Id:
6993
ClinVar RCV Id:
RCV000023199
dbSNP Id:
rs121909065
ExAC:
5:71015730 G / C
gnomAD v2:
5-71015730-G-C
gnomAD v3:
5-71719903-G-C
gnomAD v4:
5-71719903-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719903G>C , CM000667.2:g.71719903G>C | GRCh38 |
| NC_000005.9:g.71015730G>C , CM000667.1:g.71015730G>C | GRCh37 |
| NC_000005.8:g.71051486G>C | NCBI36 |
| NG_015988.1:g.5741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.183G>C MANE Select | ENSP00000296777.4:p.Leu61Phe | |
| ENST00000296777.4:c.183G>C | ENSP00000296777.4:p.Leu61Phe | |
| ENST00000513096.1:n.325G>C | ||
| NM_004291.3:c.183G>C | NP_004282.1:p.Leu61Phe | |
| NM_004291.4:c.183G>C MANE Select | NP_004282.1:p.Leu61Phe |