Linked Data
ClinVar Variation Id:
16945
dbSNP Id:
rs28931604
ExAC:
2:208992950 G / A
gnomAD v2:
2-208992950-G-A
gnomAD v3:
2-208128226-G-A
gnomAD v4:
2-208128226-G-A
COSMIC:
COSM4090665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208128226G>A , CM000664.2:g.208128226G>A | GRCh38 |
| NC_000002.11:g.208992950G>A , CM000664.1:g.208992950G>A | GRCh37 |
| NC_000002.10:g.208701195G>A | NCBI36 |
| NG_008038.1:g.6605C>T | |
| NG_008039.1:g.1364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.502C>T MANE Select | ENSP00000282141.3:p.Arg168Trp | |
| ENST00000282141.3:c.502C>T | ENSP00000282141.3:p.Arg168Trp | |
| NM_020989.3:c.502C>T | NP_066269.1:p.Arg168Trp | |
| NR_038437.1:n.98-8830G>A | ||
| XM_011510661.1:c.502C>T | XP_011508963.1:p.Arg168Trp | |
| XM_011510662.1:c.502C>T | XP_011508964.1:p.Arg168Trp | |
| XM_011510663.1:c.373C>T | XP_011508965.1:p.Arg125Trp | |
| NM_020989.4:c.502C>T MANE Select | NP_066269.1:p.Arg168Trp |