Linked Data
ClinVar Variation Id:
5862
dbSNP Id:
rs121908449
ExAC:
17:63193278 T / C
gnomAD v2:
17-63193278-T-C
gnomAD v3:
17-65197160-T-C
gnomAD v4:
17-65197160-T-C
PubMed:
PMID:14702087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65197160T>C , CM000679.2:g.65197160T>C | GRCh38 |
| NC_000017.10:g.63193278T>C , CM000679.1:g.63193278T>C | GRCh37 |
| NC_000017.9:g.60623740T>C | NCBI36 |
| NG_013021.1:g.64823T>C | |
| NG_013021.2:g.64823T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262406.10:c.895T>C MANE Select | ENSP00000262406.9:p.Trp299Arg | |
| ENST00000635833.1:c.895T>C | ENSP00000490658.1:p.Trp299Arg | |
| ENST00000262406.9:c.895T>C | ENSP00000262406.9:p.Trp299Arg | |
| ENST00000443584.7:c.886T>C | ENSP00000405814.3:p.Trp296Arg | |
| ENST00000449996.7:c.886T>C | ENSP00000396329.3:p.Trp296Arg | |
| ENST00000577595.1:n.823T>C | ||
| ENST00000581175.5:n.903T>C | ||
| ENST00000584234.5:c.895T>C | ENSP00000463410.1:p.Trp299Arg | |
| NM_001081955.2:c.886T>C | NP_001075424.1:p.Trp296Arg | |
| NM_001165933.1:c.886T>C | NP_001159405.1:p.Trp296Arg | |
| NM_003835.3:c.895T>C | NP_003826.2:p.Trp299Arg | |
| XM_011525426.1:c.307T>C | XP_011523728.1:p.Trp103Arg | |
| XM_011525426.3:c.307T>C | XP_011523728.1:p.Trp103Arg | |
| NM_003835.4:c.895T>C MANE Select | NP_003826.2:p.Trp299Arg | |
| NM_001081955.3:c.886T>C | NP_001075424.1:p.Trp296Arg | |
| NM_001165933.2:c.886T>C | NP_001159405.1:p.Trp296Arg |