Linked Data
ClinVar Variation Id:
254675
ClinVar RCV Id:
RCV000241543
dbSNP Id:
rs886038203
gnomAD v4:
17-58206382-T-C
PubMed:
PMID:24886560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206382T>C , CM000679.2:g.58206382T>C | GRCh38 |
| NC_000017.10:g.56283743T>C , CM000679.1:g.56283743T>C | GRCh37 |
| NC_000017.9:g.53638742T>C | NCBI36 |
| NG_013020.1:g.18655T>C | |
| NG_013032.1:g.18224A>G , LRG_687:g.18224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1274-2A>G | ENSP00000316631.6:n.1274-2A>G | |
| ENST00000393119.7:c.1491-2A>G MANE Select | ENSP00000376827.2:n.1491-2A>G | |
| ENST00000537529.7:c.1062-2A>G | ENSP00000442096.3:n.1062-2A>G | |
| ENST00000675753.2:c.*1110-2A>G | ENSP00000502156.1:n.*1110-2A>G | |
| ENST00000676787.1:c.1362-2A>G | ENSP00000503999.1:n.1362-2A>G | |
| ENST00000677111.1:c.*965-2A>G | ENSP00000504282.1:n.*965-2A>G | |
| ENST00000677160.1:n.2765-2A>G | ||
| ENST00000677416.1:n.2810A>G | ||
| ENST00000677486.1:c.*835-2A>G | ENSP00000503852.1:n.*835-2A>G | |
| ENST00000677709.1:n.2191-2A>G | ||
| ENST00000678011.1:n.2391-2A>G | ||
| ENST00000678432.1:c.*1265-2A>G | ENSP00000504452.1:n.*1265-2A>G | |
| ENST00000678463.1:c.1408-2A>G | ENSP00000502984.1:n.1408-2A>G | |
| ENST00000678568.1:c.*815-2A>G | ENSP00000504754.1:n.*815-2A>G | |
| ENST00000678641.1:c.*835-2A>G | ENSP00000503159.1:n.*835-2A>G | |
| ENST00000678763.1:n.1806-2A>G | ||
| ENST00000313863.10:c.1274-2A>G | ENSP00000316631.6:n.1274-2A>G | |
| ENST00000393119.6:c.1491-2A>G | ENSP00000376827.2:n.1491-2A>G | |
| ENST00000393120.6:c.*898-2A>G | ENSP00000376828.2:n.*898-2A>G | |
| ENST00000537529.6:c.1461-2A>G | ENSP00000442096.2:n.1461-2A>G | |
| ENST00000583577.1:n.317-2A>G | ||
| NM_001165927.1:c.1461-2A>G , LRG_687t2:c.1461-2A>G | NP_001159399.1:n.1461-2A>G | |
| NM_017777.3:c.1491-2A>G , LRG_687t1:c.1491-2A>G | NP_060247.2:n.1491-2A>G | |
| XM_005257483.3:c.1408-2A>G | XP_005257540.1:n.1408-2A>G | |
| XM_005257485.3:c.979-2A>G | XP_005257542.1:n.979-2A>G | |
| XM_005257486.3:c.882-2A>G | XP_005257543.1:n.882-2A>G | |
| XM_006721965.2:c.799-2A>G | XP_006722028.1:n.799-2A>G | |
| XM_011524957.1:c.1417-2A>G | XP_011523259.1:n.1417-2A>G | |
| XM_011524958.1:c.1500-2A>G | XP_011523260.1:n.1500-2A>G | |
| XM_011524959.1:c.1283-2A>G | XP_011523261.1:n.1283-2A>G | |
| NM_001321268.1:c.882-2A>G | NP_001308197.1:n.882-2A>G | |
| NM_001321269.1:c.1408-2A>G | NP_001308198.1:n.1408-2A>G | |
| NM_001330397.1:c.1274-2A>G | NP_001317326.1:n.1274-2A>G | |
| XM_005257485.4:c.979-2A>G | XP_005257542.1:n.979-2A>G | |
| XM_006721965.3:c.799-2A>G | XP_006722028.1:n.799-2A>G | |
| XM_011524957.2:c.1417-2A>G | XP_011523259.1:n.1417-2A>G | |
| XM_011524958.2:c.1500-2A>G | XP_011523260.1:n.1500-2A>G | |
| XM_011524959.2:c.1283-2A>G | XP_011523261.1:n.1283-2A>G | |
| XM_017024805.1:c.1062-2A>G | XP_016880294.1:n.1062-2A>G | |
| XR_002958042.1:n.1419-2A>G | ||
| NM_001321268.2:c.882-2A>G | NP_001308197.1:n.882-2A>G | |
| NM_001321269.2:c.1408-2A>G | NP_001308198.1:n.1408-2A>G | |
| NM_001330397.2:c.1274-2A>G | NP_001317326.1:n.1274-2A>G | |
| NM_017777.4:c.1491-2A>G MANE Select | NP_060247.2:n.1491-2A>G |