Linked Data
dbSNP Id:
rs370405836
ExAC:
19:10267232 G / A
gnomAD v2:
19-10267232-G-A
gnomAD v3:
19-10156556-G-A
gnomAD v4:
19-10156556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156556G>A , CM000681.2:g.10156556G>A | GRCh38 |
| NC_000019.9:g.10267232G>A , CM000681.1:g.10267232G>A | GRCh37 |
| NC_000019.8:g.10128232G>A | NCBI36 |
| NG_028016.3:g.79731C>T , LRG_362:g.79731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1281-47C>T MANE Select | ENSP00000352516.3:n.1281-47C>T | |
| ENST00000676604.1:n.893-47C>T | ||
| ENST00000676610.1:c.1233-47C>T | ENSP00000504236.1:n.1233-47C>T | |
| ENST00000676820.1:n.1289-47C>T | ||
| ENST00000676868.1:n.1917-47C>T | ||
| ENST00000677013.1:c.*923-47C>T | ENSP00000503135.1:n.*923-47C>T | |
| ENST00000677250.1:c.*353-47C>T | ENSP00000502894.1:n.*353-47C>T | |
| ENST00000677616.1:c.924-47C>T | ENSP00000503055.1:n.924-47C>T | |
| ENST00000677634.1:c.1233-47C>T | ENSP00000504246.1:n.1233-47C>T | |
| ENST00000677685.1:c.*458-47C>T | ENSP00000503407.1:n.*458-47C>T | |
| ENST00000677783.1:n.1703-47C>T | ||
| ENST00000677946.1:c.1233-47C>T | ENSP00000504202.1:n.1233-47C>T | |
| ENST00000678024.1:n.1376-47C>T | ||
| ENST00000678694.1:n.554-47C>T | ||
| ENST00000678804.1:c.1233-47C>T | ENSP00000503853.1:n.1233-47C>T | |
| ENST00000679103.1:c.1233-47C>T | ENSP00000503151.1:n.1233-47C>T | |
| ENST00000679313.1:c.1233-47C>T | ENSP00000504512.1:n.1233-47C>T | |
| ENST00000340748.8:c.1233-47C>T | ENSP00000345739.3:n.1233-47C>T | |
| ENST00000359526.8:c.1281-47C>T | ENSP00000352516.3:n.1281-47C>T | |
| ENST00000540357.5:c.225-47C>T | ENSP00000440457.2:n.225-47C>T | |
| ENST00000585843.1:n.438-47C>T | ||
| ENST00000592705.5:c.*971-47C>T | ENSP00000466657.1:n.*971-47C>T | |
| NM_001130823.1:c.1281-47C>T , LRG_362t1:c.1281-47C>T | NP_001124295.1:n.1281-47C>T | |
| NM_001379.2:c.1233-47C>T | NP_001370.1:n.1233-47C>T | |
| XM_011527772.1:c.1281-47C>T | XP_011526074.1:n.1281-47C>T | |
| XM_011527773.1:c.1233-47C>T | XP_011526075.1:n.1233-47C>T | |
| XM_011527774.1:c.870-47C>T | XP_011526076.1:n.870-47C>T | |
| NM_001130823.2:c.1281-47C>T | NP_001124295.1:n.1281-47C>T | |
| NM_001318730.1:c.1233-47C>T | NP_001305659.1:n.1233-47C>T | |
| NM_001318731.1:c.918-47C>T | NP_001305660.1:n.918-47C>T | |
| NM_001379.3:c.1233-47C>T | NP_001370.1:n.1233-47C>T | |
| NM_001130823.3:c.1281-47C>T MANE Select | NP_001124295.1:n.1281-47C>T | |
| NM_001318730.2:c.1233-47C>T | NP_001305659.1:n.1233-47C>T | |
| NM_001318731.2:c.918-47C>T | NP_001305660.1:n.918-47C>T | |
| NM_001379.4:c.1233-47C>T | NP_001370.1:n.1233-47C>T |