Linked Data
ClinVar Variation Id:
1970406
ClinVar RCV Id:
RCV002730551
dbSNP Id:
rs1409068457
gnomAD v3:
19-10180583-G-A
gnomAD v4:
19-10180583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10180583G>A , CM000681.2:g.10180583G>A | GRCh38 |
| NC_000019.9:g.10291259G>A , CM000681.1:g.10291259G>A | GRCh37 |
| NC_000019.8:g.10152259G>A | NCBI36 |
| NG_028016.3:g.55704C>T , LRG_362:g.55704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.226-14C>T MANE Select | ENSP00000352516.3:n.226-14C>T | |
| ENST00000676610.1:c.226-14C>T | ENSP00000504236.1:n.226-14C>T | |
| ENST00000676820.1:n.282-14C>T | ||
| ENST00000677013.1:c.226-54C>T | ENSP00000503135.1:n.226-54C>T | |
| ENST00000677250.1:c.226-14C>T | ENSP00000502894.1:n.226-14C>T | |
| ENST00000677616.1:c.-138-14C>T | ENSP00000503055.1:n.-138-14C>T | |
| ENST00000677634.1:c.226-14C>T | ENSP00000504246.1:n.226-14C>T | |
| ENST00000677685.1:c.225+195C>T | ENSP00000503407.1:n.225+195C>T | |
| ENST00000677946.1:c.226-14C>T | ENSP00000504202.1:n.226-14C>T | |
| ENST00000678804.1:c.226-14C>T | ENSP00000503853.1:n.226-14C>T | |
| ENST00000679103.1:c.226-14C>T | ENSP00000503151.1:n.226-14C>T | |
| ENST00000679313.1:c.226-14C>T | ENSP00000504512.1:n.226-14C>T | |
| ENST00000340748.8:c.226-14C>T | ENSP00000345739.3:n.226-14C>T | |
| ENST00000359526.8:c.226-14C>T | ENSP00000352516.3:n.226-14C>T | |
| ENST00000540357.5:c.-560-3219C>T | ENSP00000440457.2:n.-560-3219C>T | |
| ENST00000586086.1:n.383-14C>T | ||
| ENST00000586800.5:c.-138-14C>T | ENSP00000465555.1:n.-138-14C>T | |
| ENST00000586988.5:c.*54-14C>T | ENSP00000464958.1:n.*54-14C>T | |
| ENST00000588118.5:c.391-14C>T | ENSP00000465223.1:n.391-14C>T | |
| ENST00000588952.5:c.-138-14C>T | ENSP00000467050.1:n.-138-14C>T | |
| ENST00000592054.5:c.-138-14C>T | ENSP00000468359.1:n.-138-14C>T | |
| ENST00000592342.5:c.-138-14C>T | ENSP00000465993.1:n.-138-14C>T | |
| ENST00000592705.5:c.226-54C>T | ENSP00000466657.1:n.226-54C>T | |
| NM_001130823.1:c.226-14C>T , LRG_362t1:c.226-14C>T | NP_001124295.1:n.226-14C>T | |
| NM_001379.2:c.226-14C>T | NP_001370.1:n.226-14C>T | |
| XM_011527772.1:c.226-14C>T | XP_011526074.1:n.226-14C>T | |
| XM_011527773.1:c.226-14C>T | XP_011526075.1:n.226-14C>T | |
| XM_011527774.1:c.-138-14C>T | XP_011526076.1:n.-138-14C>T | |
| NM_001130823.2:c.226-14C>T | NP_001124295.1:n.226-14C>T | |
| NM_001318730.1:c.226-14C>T | NP_001305659.1:n.226-14C>T | |
| NM_001318731.1:c.-98-54C>T | NP_001305660.1:n.-98-54C>T | |
| NM_001379.3:c.226-14C>T | NP_001370.1:n.226-14C>T | |
| NM_001130823.3:c.226-14C>T MANE Select | NP_001124295.1:n.226-14C>T | |
| NM_001318730.2:c.226-14C>T | NP_001305659.1:n.226-14C>T | |
| NM_001318731.2:c.-98-54C>T | NP_001305660.1:n.-98-54C>T | |
| NM_001379.4:c.226-14C>T | NP_001370.1:n.226-14C>T |