Linked Data
ClinVar Variation Id:
681295
dbSNP Id:
rs2288349
ExAC:
19:10257245 G / A
gnomAD v2:
19-10257245-G-A
gnomAD v3:
19-10146569-G-A
gnomAD v4:
19-10146569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10146569G>A , CM000681.2:g.10146569G>A | GRCh38 |
| NC_000019.9:g.10257245G>A , CM000681.1:g.10257245G>A | GRCh37 |
| NC_000019.8:g.10118245G>A | NCBI36 |
| NG_028016.3:g.89718C>T , LRG_362:g.89718C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359526.9:c.2721-45C>T MANE Select | ENSP00000352516.3:n.2721-45C>T | |
| ENST00000586667.2:n.756-45C>T | ||
| ENST00000676604.1:n.2333-45C>T | ||
| ENST00000676610.1:c.2673-45C>T | ENSP00000504236.1:n.2673-45C>T | |
| ENST00000676820.1:n.2729-45C>T | ||
| ENST00000676868.1:n.3357-45C>T | ||
| ENST00000677013.1:c.*2363-45C>T | ENSP00000503135.1:n.*2363-45C>T | |
| ENST00000677250.1:c.*1793-45C>T | ENSP00000502894.1:n.*1793-45C>T | |
| ENST00000677616.1:c.2364-45C>T | ENSP00000503055.1:n.2364-45C>T | |
| ENST00000677634.1:c.2673-45C>T | ENSP00000504246.1:n.2673-45C>T | |
| ENST00000677685.1:c.*1898-45C>T | ENSP00000503407.1:n.*1898-45C>T | |
| ENST00000677783.1:n.3143-45C>T | ||
| ENST00000677946.1:c.2673-45C>T | ENSP00000504202.1:n.2673-45C>T | |
| ENST00000678024.1:n.2816-45C>T | ||
| ENST00000678647.1:n.806-45C>T | ||
| ENST00000678694.1:n.1994-45C>T | ||
| ENST00000678804.1:c.2673-45C>T | ENSP00000503853.1:n.2673-45C>T | |
| ENST00000679100.1:n.860-45C>T | ||
| ENST00000679103.1:c.2673-45C>T | ENSP00000503151.1:n.2673-45C>T | |
| ENST00000679313.1:c.2673-45C>T | ENSP00000504512.1:n.2673-45C>T | |
| ENST00000340748.8:c.2673-45C>T | ENSP00000345739.3:n.2673-45C>T | |
| ENST00000359526.8:c.2721-45C>T | ENSP00000352516.3:n.2721-45C>T | |
| ENST00000540357.5:c.1665-45C>T | ENSP00000440457.2:n.1665-45C>T | |
| ENST00000592705.5:c.*2411-45C>T | ENSP00000466657.1:n.*2411-45C>T | |
| NM_001130823.1:c.2721-45C>T , LRG_362t1:c.2721-45C>T | NP_001124295.1:n.2721-45C>T | |
| NM_001379.2:c.2673-45C>T | NP_001370.1:n.2673-45C>T | |
| XM_011527772.1:c.2721-45C>T | XP_011526074.1:n.2721-45C>T | |
| XM_011527773.1:c.2673-45C>T | XP_011526075.1:n.2673-45C>T | |
| XM_011527774.1:c.2310-45C>T | XP_011526076.1:n.2310-45C>T | |
| NM_001130823.2:c.2721-45C>T | NP_001124295.1:n.2721-45C>T | |
| NM_001318730.1:c.2673-45C>T | NP_001305659.1:n.2673-45C>T | |
| NM_001318731.1:c.2358-45C>T | NP_001305660.1:n.2358-45C>T | |
| NM_001379.3:c.2673-45C>T | NP_001370.1:n.2673-45C>T | |
| NM_001130823.3:c.2721-45C>T MANE Select | NP_001124295.1:n.2721-45C>T | |
| NM_001318730.2:c.2673-45C>T | NP_001305659.1:n.2673-45C>T | |
| NM_001318731.2:c.2358-45C>T | NP_001305660.1:n.2358-45C>T | |
| NM_001379.4:c.2673-45C>T | NP_001370.1:n.2673-45C>T |