Linked Data
dbSNP Id:
rs141506210
gnomAD v4:
17-6703921-G-T
MyVariant Identifiers:
chr17:g.6607240G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703921G>T , CM000679.2:g.6703921G>T | GRCh38 |
| NC_000017.10:g.6607240G>T , CM000679.1:g.6607240G>T | GRCh37 |
| NC_000017.9:g.6547964G>T | NCBI36 |
| NG_034220.1:g.14501C>A , LRG_1020:g.14501C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.504C>A MANE Select | ENSP00000406220.2:p.Ala168= | |
| ENST00000293800.10:c.453C>A | ENSP00000293800.6:p.Ala151= | |
| ENST00000381074.8:c.375C>A | ENSP00000370464.4:p.Ala125= | |
| ENST00000433363.6:c.504C>A | ENSP00000406220.2:p.Ala168= | |
| ENST00000572094.1:c.*254C>A | ENSP00000461495.1:n.*254C>A | |
| ENST00000572352.5:c.393C>A | ENSP00000461622.1:p.Ala131= | |
| ENST00000573648.5:c.504C>A | ENSP00000459372.1:p.Ala168= | |
| ENST00000574824.5:n.1637C>A | ||
| ENST00000576323.1:n.534C>A | ||
| NM_001143838.2:c.504C>A | NP_001137310.1:p.Ala168= | |
| NM_001284509.1:c.453C>A | NP_001271438.1:p.Ala151= | |
| NM_001284510.1:c.375C>A | NP_001271439.1:p.Ala125= | |
| NM_177550.4:c.504C>A , LRG_1020t1:c.504C>A | NP_808218.1:p.Ala168= | |
| XM_006721504.2:c.393C>A | XP_006721567.1:p.Ala131= | |
| XM_011523795.1:c.504C>A | XP_011522097.1:p.Ala168= | |
| XM_011523795.3:c.504C>A | XP_011522097.1:p.Ala168= | |
| NM_001143838.3:c.504C>A | NP_001137310.1:p.Ala168= | |
| NM_001284509.2:c.453C>A | NP_001271438.1:p.Ala151= | |
| NM_001284510.2:c.375C>A | NP_001271439.1:p.Ala125= | |
| NM_177550.5:c.504C>A MANE Select | NP_808218.1:p.Ala168= |