Linked Data
ClinVar Variation Id:
30453
ClinVar RCV Id:
RCV000023406
dbSNP Id:
rs1553210984
PubMed:
PMID:20929727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160355959G>A , CM000663.2:g.160355959G>A | GRCh38 |
| NC_000001.10:g.160325749G>A , CM000663.1:g.160325749G>A | GRCh37 |
| NC_000001.9:g.158592373G>A | NCBI36 |
| NG_027935.1:g.17687G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421914.6:c.1137+1G>A (NCSTN) | ENSP00000390409.2:n.1137+1G>A | |
| ENST00000459963.6:c.*949+1G>A (NCSTN) | ENSP00000493689.2:n.*949+1G>A | |
| ENST00000491390.2:n.353+1G>A (NCSTN) | ||
| ENST00000699526.1:n.2534+1G>A (NCSTN) | ||
| ENST00000699527.1:c.*542+1G>A (NCSTN) | ENSP00000514419.1:n.*542+1G>A | |
| ENST00000699528.1:c.1551+1G>A (NCSTN) | ENSP00000514420.1:n.1551+1G>A | |
| ENST00000699529.1:n.1880+1G>A (NCSTN) | ||
| ENST00000699530.1:c.*984+1G>A (NCSTN) | ENSP00000514421.1:n.*984+1G>A | |
| ENST00000699531.1:n.1632+1G>A (NCSTN) | ||
| ENST00000699532.1:c.1353-301G>A (NCSTN) | ENSP00000514422.1:n.1353-301G>A | |
| ENST00000699533.1:n.2951G>A (NCSTN) | ||
| ENST00000699534.1:n.2610G>A (NCSTN) | ||
| ENST00000699535.1:n.1986G>A (NCSTN) | ||
| ENST00000699536.1:n.3102G>A (NCSTN) | ||
| ENST00000699537.1:n.1219G>A (NCSTN) | ||
| ENST00000699538.1:c.1446+1G>A (NCSTN) | ENSP00000514423.1:n.1446+1G>A | |
| ENST00000699539.1:n.2512+1G>A (NCSTN) | ||
| ENST00000699540.1:c.*770+1G>A (NCSTN) | ENSP00000514424.1:n.*770+1G>A | |
| ENST00000699541.1:c.1448+1G>A (NCSTN) | ENSP00000514425.1:n.1448+1G>A | |
| ENST00000699542.1:n.1880+1G>A (NCSTN) | ||
| ENST00000699543.1:c.*542+1G>A (NCSTN) | ENSP00000514426.1:n.*542+1G>A | |
| ENST00000699544.1:n.1730G>A (NCSTN) | ||
| ENST00000699545.1:c.*770+1G>A (NCSTN) | ENSP00000514427.1:n.*770+1G>A | |
| ENST00000699546.1:c.1290+1G>A (NCSTN) | ENSP00000514428.1:n.1290+1G>A | |
| ENST00000699547.1:n.1729+1G>A (NCSTN) | ||
| ENST00000699548.1:n.1955+1G>A (NCSTN) | ||
| ENST00000699549.1:c.1137+1G>A (NCSTN) | ENSP00000514429.1:n.1137+1G>A | |
| ENST00000699550.1:n.2203+1G>A (NCSTN) | ||
| ENST00000699551.1:n.3102G>A (NCSTN) | ||
| ENST00000699552.1:n.1737+1G>A (NCSTN) | ||
| ENST00000699553.1:c.1446+1G>A (NCSTN) | ENSP00000514430.1:n.1446+1G>A | |
| ENST00000699554.1:c.*816+1G>A (NCSTN) | ENSP00000514431.1:n.*816+1G>A | |
| ENST00000699556.1:n.2252+1G>A (NCSTN) | ||
| ENST00000699557.1:n.1347+1G>A (NCSTN) | ||
| ENST00000294785.10:c.1551+1G>A (NCSTN) MANE Select | ENSP00000294785.5:n.1551+1G>A | |
| ENST00000368063.6:c.*1480+1G>A (NCSTN) | ENSP00000357042.2:n.*1480+1G>A | |
| ENST00000294785.9:c.1551+1G>A (NCSTN) | ENSP00000294785.5:n.1551+1G>A | |
| ENST00000368063.5:c.1491+1G>A (NCSTN) | ENSP00000357042.1:n.1491+1G>A | |
| ENST00000435149.1:c.581+1G>A (NCSTN) | ||
| ENST00000459963.5:n.1158+1G>A (NCSTN) | ||
| ENST00000491390.1:n.169+1G>A (NCSTN) | ||
| NM_001290184.1:c.1491+1G>A (NCSTN) | NP_001277113.1:n.1491+1G>A | |
| NM_001290186.1:c.1137+1G>A (NCSTN) | NP_001277115.1:n.1137+1G>A | |
| NM_015331.2:c.1551+1G>A (NCSTN) | NP_056146.1:n.1551+1G>A | |
| XM_011509363.1:c.1551+1G>A (NCSTN) | XP_011507665.1:n.1551+1G>A | |
| XM_011509364.1:c.1269+1G>A (NCSTN) | XP_011507666.1:n.1269+1G>A | |
| XM_011509584.1:c.-175-14598G>A (NHLH1) | XP_011507886.1:n.-175-14598G>A | |
| NM_001349729.1:c.1551+1G>A (NCSTN) | NP_001336658.1:n.1551+1G>A | |
| NM_015331.3:c.1551+1G>A (NCSTN) MANE Select | NP_056146.1:n.1551+1G>A | |
| NM_001290184.2:c.1491+1G>A (NCSTN) | NP_001277113.1:n.1491+1G>A | |
| NM_001290186.2:c.1137+1G>A (NCSTN) | NP_001277115.1:n.1137+1G>A | |
| NM_001349729.2:c.1551+1G>A (NCSTN) | NP_001336658.1:n.1551+1G>A |