Linked Data
ClinVar Variation Id:
18183
ClinVar RCV Id:
RCV000019815
dbSNP Id:
rs2066702
ExAC:
4:100229017 G / A
gnomAD v2:
4-100229017-G-A
gnomAD v3:
4-99307860-G-A
gnomAD v4:
4-99307860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307860G>A , CM000666.2:g.99307860G>A | GRCh38 |
| NC_000004.11:g.100229017G>A , CM000666.1:g.100229017G>A | GRCh37 |
| NC_000004.10:g.100448040G>A | NCBI36 |
| NG_011435.1:g.18556C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305046.13:c.1108C>T MANE Select | ENSP00000306606.8:p.Arg370Cys | |
| ENST00000639454.1:c.1108C>T | ENSP00000491622.1:p.Arg370Cys | |
| ENST00000305046.12:c.1108C>T | ENSP00000306606.8:p.Arg370Cys | |
| ENST00000506651.5:c.988C>T | ENSP00000425998.2:p.Arg330Cys | |
| ENST00000515694.4:n.3203C>T | ||
| ENST00000625860.2:c.988C>T | ENSP00000486614.1:p.Arg330Cys | |
| NM_000668.5:c.1108C>T | NP_000659.2:p.Arg370Cys | |
| NM_001286650.1:c.988C>T | NP_001273579.1:p.Arg330Cys | |
| NM_000668.6:c.1108C>T MANE Select | NP_000659.2:p.Arg370Cys | |
| NM_001286650.2:c.988C>T | NP_001273579.1:p.Arg330Cys |