Linked Data
ClinVar Variation Id:
254677
ClinVar RCV Id:
RCV000241541
dbSNP Id:
rs886038204
PubMed:
PMID:24886560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206282C>A , CM000679.2:g.58206282C>A | GRCh38 |
| NC_000017.10:g.56283643C>A , CM000679.1:g.56283643C>A | GRCh37 |
| NC_000017.9:g.53638642C>A | NCBI36 |
| NG_013020.1:g.18555C>A | |
| NG_013032.1:g.18324G>T , LRG_687:g.18324G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1371+1G>T | ENSP00000316631.6:n.1371+1G>T | |
| ENST00000393119.7:c.1588+1G>T MANE Select | ENSP00000376827.2:n.1588+1G>T | |
| ENST00000537529.7:c.1159+1G>T | ENSP00000442096.3:n.1159+1G>T | |
| ENST00000675753.2:c.*1207+1G>T | ENSP00000502156.1:n.*1207+1G>T | |
| ENST00000676787.1:c.1459+1G>T | ENSP00000503999.1:n.1459+1G>T | |
| ENST00000677111.1:c.*1062+1G>T | ENSP00000504282.1:n.*1062+1G>T | |
| ENST00000677160.1:n.2862+1G>T | ||
| ENST00000677416.1:n.2909+1G>T | ||
| ENST00000677486.1:c.*932+1G>T | ENSP00000503852.1:n.*932+1G>T | |
| ENST00000677709.1:n.2288+1G>T | ||
| ENST00000678011.1:n.2488+1G>T | ||
| ENST00000678432.1:c.*1362+1G>T | ENSP00000504452.1:n.*1362+1G>T | |
| ENST00000678463.1:c.1505+1G>T | ENSP00000502984.1:n.1505+1G>T | |
| ENST00000678568.1:c.*912+1G>T | ENSP00000504754.1:n.*912+1G>T | |
| ENST00000678641.1:c.*932+1G>T | ENSP00000503159.1:n.*932+1G>T | |
| ENST00000678763.1:n.1903+1G>T | ||
| ENST00000313863.10:c.1371+1G>T | ENSP00000316631.6:n.1371+1G>T | |
| ENST00000393119.6:c.1588+1G>T | ENSP00000376827.2:n.1588+1G>T | |
| ENST00000393120.6:c.*995+1G>T | ENSP00000376828.2:n.*995+1G>T | |
| ENST00000537529.6:c.1558+1G>T | ENSP00000442096.2:n.1558+1G>T | |
| ENST00000583577.1:n.414+1G>T | ||
| NM_001165927.1:c.1558+1G>T , LRG_687t2:c.1558+1G>T | NP_001159399.1:n.1558+1G>T | |
| NM_017777.3:c.1588+1G>T , LRG_687t1:c.1588+1G>T | NP_060247.2:n.1588+1G>T | |
| XM_005257483.3:c.1505+1G>T | XP_005257540.1:n.1505+1G>T | |
| XM_005257485.3:c.1076+1G>T | XP_005257542.1:n.1076+1G>T | |
| XM_005257486.3:c.979+1G>T | XP_005257543.1:n.979+1G>T | |
| XM_006721965.2:c.896+1G>T | XP_006722028.1:n.896+1G>T | |
| XM_011524957.1:c.1514+1G>T | XP_011523259.1:n.1514+1G>T | |
| XM_011524958.1:c.1597+1G>T | XP_011523260.1:n.1597+1G>T | |
| XM_011524959.1:c.1380+1G>T | XP_011523261.1:n.1380+1G>T | |
| NM_001321268.1:c.979+1G>T | NP_001308197.1:n.979+1G>T | |
| NM_001321269.1:c.1505+1G>T | NP_001308198.1:n.1505+1G>T | |
| NM_001330397.1:c.1371+1G>T | NP_001317326.1:n.1371+1G>T | |
| XM_005257485.4:c.1076+1G>T | XP_005257542.1:n.1076+1G>T | |
| XM_006721965.3:c.896+1G>T | XP_006722028.1:n.896+1G>T | |
| XM_011524957.2:c.1514+1G>T | XP_011523259.1:n.1514+1G>T | |
| XM_011524958.2:c.1597+1G>T | XP_011523260.1:n.1597+1G>T | |
| XM_011524959.2:c.1380+1G>T | XP_011523261.1:n.1380+1G>T | |
| XM_017024805.1:c.1159+1G>T | XP_016880294.1:n.1159+1G>T | |
| XR_002958042.1:n.1516+1G>T | ||
| NM_001321268.2:c.979+1G>T | NP_001308197.1:n.979+1G>T | |
| NM_001321269.2:c.1505+1G>T | NP_001308198.1:n.1505+1G>T | |
| NM_001330397.2:c.1371+1G>T | NP_001317326.1:n.1371+1G>T | |
| NM_017777.4:c.1588+1G>T MANE Select | NP_060247.2:n.1588+1G>T |