Linked Data
ClinVar Variation Id:
246584
dbSNP Id:
rs142562681
ExAC:
19:10260595 G / T
gnomAD v2:
19-10260595-G-T
gnomAD v3:
19-10149919-G-T
gnomAD v4:
19-10149919-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10149919G>T , CM000681.2:g.10149919G>T | GRCh38 |
| NC_000019.9:g.10260595G>T , CM000681.1:g.10260595G>T | GRCh37 |
| NC_000019.8:g.10121595G>T | NCBI36 |
| NG_028016.3:g.86368C>A , LRG_362:g.86368C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.2315C>A MANE Select | ENSP00000352516.3:p.Thr772Asn | |
| ENST00000586667.2:n.350C>A | ||
| ENST00000676604.1:n.1927C>A | ||
| ENST00000676610.1:c.2267C>A | ENSP00000504236.1:p.Thr756Asn | |
| ENST00000676820.1:n.2323C>A | ||
| ENST00000676868.1:n.2951C>A | ||
| ENST00000677013.1:c.*1957C>A | ENSP00000503135.1:n.*1957C>A | |
| ENST00000677250.1:c.*1387C>A | ENSP00000502894.1:n.*1387C>A | |
| ENST00000677616.1:c.1958C>A | ENSP00000503055.1:p.Thr653Asn | |
| ENST00000677634.1:c.2267C>A | ENSP00000504246.1:p.Thr756Asn | |
| ENST00000677685.1:c.*1492C>A | ENSP00000503407.1:n.*1492C>A | |
| ENST00000677783.1:n.2737C>A | ||
| ENST00000677946.1:c.2267C>A | ENSP00000504202.1:p.Thr756Asn | |
| ENST00000678024.1:n.2410C>A | ||
| ENST00000678647.1:n.400C>A | ||
| ENST00000678694.1:n.1588C>A | ||
| ENST00000678804.1:c.2267C>A | ENSP00000503853.1:p.Thr756Asn | |
| ENST00000679100.1:n.454C>A | ||
| ENST00000679103.1:c.2267C>A | ENSP00000503151.1:p.Thr756Asn | |
| ENST00000679313.1:c.2267C>A | ENSP00000504512.1:p.Thr756Asn | |
| ENST00000340748.8:c.2267C>A | ENSP00000345739.3:p.Thr756Asn | |
| ENST00000359526.8:c.2315C>A | ENSP00000352516.3:p.Thr772Asn | |
| ENST00000540357.5:c.1259C>A | ENSP00000440457.2:p.Thr420Asn | |
| ENST00000586667.1:n.350C>A | ||
| ENST00000592705.5:c.*2005C>A | ENSP00000466657.1:n.*2005C>A | |
| NM_001130823.1:c.2315C>A , LRG_362t1:c.2315C>A | NP_001124295.1:p.Thr772Asn | |
| NM_001379.2:c.2267C>A | NP_001370.1:p.Thr756Asn | |
| XM_011527772.1:c.2315C>A | XP_011526074.1:p.Thr772Asn | |
| XM_011527773.1:c.2267C>A | XP_011526075.1:p.Thr756Asn | |
| XM_011527774.1:c.1904C>A | XP_011526076.1:p.Thr635Asn | |
| NM_001130823.2:c.2315C>A | NP_001124295.1:p.Thr772Asn | |
| NM_001318730.1:c.2267C>A | NP_001305659.1:p.Thr756Asn | |
| NM_001318731.1:c.1952C>A | NP_001305660.1:p.Thr651Asn | |
| NM_001379.3:c.2267C>A | NP_001370.1:p.Thr756Asn | |
| NM_001130823.3:c.2315C>A MANE Select | NP_001124295.1:p.Thr772Asn | |
| NM_001318730.2:c.2267C>A | NP_001305659.1:p.Thr756Asn | |
| NM_001318731.2:c.1952C>A | NP_001305660.1:p.Thr651Asn | |
| NM_001379.4:c.2267C>A | NP_001370.1:p.Thr756Asn |