Linked Data
ClinVar Variation Id:
239118
dbSNP Id:
rs150520869
ExAC:
X:119582877 G / A
gnomAD v2:
X-119582877-G-A
gnomAD v3:
X-120449022-G-A
gnomAD v4:
X-120449022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120449022G>A , CM000685.2:g.120449022G>A | GRCh38 |
| NC_000023.10:g.119582877G>A , CM000685.1:g.119582877G>A | GRCh37 |
| NC_000023.9:g.119466905G>A | NCBI36 |
| NG_007995.1:g.25328C>T , LRG_749:g.25328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.504C>T | ENSP00000516464.1:p.Tyr168= | |
| ENST00000200639.9:c.504C>T MANE Select | ENSP00000200639.4:p.Tyr168= | |
| ENST00000200639.8:c.504C>T | ENSP00000200639.4:p.Tyr168= | |
| ENST00000371335.4:c.504C>T | ENSP00000360386.4:p.Tyr168= | |
| ENST00000434600.6:c.504C>T | ENSP00000408411.2:p.Tyr168= | |
| ENST00000486593.5:c.47C>T | ||
| NM_001122606.1:c.504C>T , LRG_749t3:c.504C>T | NP_001116078.1:p.Tyr168= | |
| NM_002294.2:c.504C>T , LRG_749t1:c.504C>T | NP_002285.1:p.Tyr168= | |
| NM_013995.2:c.504C>T , LRG_749t2:c.504C>T | NP_054701.1:p.Tyr168= | |
| NM_002294.3:c.504C>T MANE Select | NP_002285.1:p.Tyr168= |