Linked Data
ClinVar Variation Id:
208489
ClinVar RCV Id:
RCV000190502
dbSNP Id:
rs797045004
PubMed:
PMID:20862796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50595598T>A , CM000676.2:g.50595598T>A | GRCh38 |
| NC_000014.8:g.51062316T>A , CM000676.1:g.51062316T>A | GRCh37 |
| NC_000014.7:g.50132066T>A | NCBI36 |
| NG_009028.1:g.67517T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.596T>A | ENSP00000450989.2:p.Leu199Gln | |
| ENST00000556478.3:c.596T>A | ENSP00000501428.2:p.Leu199Gln | |
| ENST00000682037.1:c.596T>A | ENSP00000508289.1:p.Leu199Gln | |
| ENST00000682219.1:n.1934T>A | ||
| ENST00000682487.1:n.930T>A | ||
| ENST00000683037.1:n.517T>A | ||
| ENST00000683330.1:n.930T>A | ||
| ENST00000683703.1:n.930T>A | ||
| ENST00000683837.1:n.930T>A | ||
| ENST00000358385.12:c.596T>A MANE Select | ENSP00000351155.7:p.Leu199Gln | |
| ENST00000674288.1:c.*1888T>A | ENSP00000501522.1:n.*1888T>A | |
| ENST00000358385.10:c.596T>A | ENSP00000351155.6:p.Leu199Gln | |
| ENST00000441560.6:c.596T>A | ENSP00000413675.2:p.Leu199Gln | |
| ENST00000554886.1:c.164T>A | ENSP00000452074.1:p.Leu55Gln | |
| NM_001127713.1:c.596T>A | NP_001121185.1:p.Leu199Gln | |
| NM_015915.4:c.596T>A | NP_056999.2:p.Leu199Gln | |
| NM_181598.3:c.596T>A | NP_853629.2:p.Leu199Gln | |
| NM_015915.5:c.596T>A MANE Select | NP_056999.2:p.Leu199Gln | |
| NM_181598.4:c.596T>A | NP_853629.2:p.Leu199Gln |