Linked Data
ClinVar Variation Id:
377791
dbSNP Id:
rs183300496
ExAC:
19:10246394 G / A
gnomAD v2:
19-10246394-G-A
gnomAD v3:
19-10135718-G-A
gnomAD v4:
19-10135718-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10135718G>A , CM000681.2:g.10135718G>A | GRCh38 |
| NC_000019.9:g.10246394G>A , CM000681.1:g.10246394G>A | GRCh37 |
| NC_000019.8:g.10107394G>A | NCBI36 |
| NG_028016.3:g.100569C>T , LRG_362:g.100569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.4773+18C>T MANE Select | ENSP00000352516.3:n.4773+18C>T | |
| ENST00000586667.2:n.2808+18C>T | ||
| ENST00000589351.6:n.3959+18C>T | ||
| ENST00000676604.1:n.4385+18C>T | ||
| ENST00000676610.1:c.4743C>T | ENSP00000504236.1:p.Pro1581= | |
| ENST00000676820.1:n.5619+18C>T | ||
| ENST00000676868.1:n.5409+18C>T | ||
| ENST00000677013.1:c.*4415+18C>T | ENSP00000503135.1:n.*4415+18C>T | |
| ENST00000677038.1:n.1321+18C>T | ||
| ENST00000677250.1:c.*3845+18C>T | ENSP00000502894.1:n.*3845+18C>T | |
| ENST00000677616.1:c.*995+18C>T | ENSP00000503055.1:n.*995+18C>T | |
| ENST00000677634.1:c.*1328+18C>T | ENSP00000504246.1:n.*1328+18C>T | |
| ENST00000677685.1:c.*3950+18C>T | ENSP00000503407.1:n.*3950+18C>T | |
| ENST00000677783.1:n.6033+18C>T | ||
| ENST00000677946.1:c.4725+18C>T | ENSP00000504202.1:n.4725+18C>T | |
| ENST00000678024.1:n.5706+18C>T | ||
| ENST00000678107.1:n.1768+18C>T | ||
| ENST00000678239.1:n.1644C>T | ||
| ENST00000678647.1:n.2867+18C>T | ||
| ENST00000678694.1:n.4046+18C>T | ||
| ENST00000678804.1:c.4734+18C>T | ENSP00000503853.1:n.4734+18C>T | |
| ENST00000678851.1:n.785C>T | ||
| ENST00000678957.1:n.2437+18C>T | ||
| ENST00000679100.1:n.2912+18C>T | ||
| ENST00000679103.1:c.4725+18C>T | ENSP00000503151.1:n.4725+18C>T | |
| ENST00000679313.1:c.4734+18C>T | ENSP00000504512.1:n.4734+18C>T | |
| ENST00000340748.8:c.4725+18C>T | ENSP00000345739.3:n.4725+18C>T | |
| ENST00000359526.8:c.4773+18C>T | ENSP00000352516.3:n.4773+18C>T | |
| ENST00000540357.5:c.3717+18C>T | ENSP00000440457.2:n.3717+18C>T | |
| ENST00000586588.5:n.2646+18C>T | ||
| ENST00000588913.5:c.1070C>T | ||
| ENST00000592705.5:c.*4463+18C>T | ENSP00000466657.1:n.*4463+18C>T | |
| NM_001130823.1:c.4773+18C>T , LRG_362t1:c.4773+18C>T | NP_001124295.1:n.4773+18C>T | |
| NM_001379.2:c.4725+18C>T | NP_001370.1:n.4725+18C>T | |
| XM_011527772.1:c.4782+18C>T | XP_011526074.1:n.4782+18C>T | |
| XM_011527773.1:c.4734+18C>T | XP_011526075.1:n.4734+18C>T | |
| XM_011527774.1:c.4371+18C>T | XP_011526076.1:n.4371+18C>T | |
| NM_001130823.2:c.4773+18C>T | NP_001124295.1:n.4773+18C>T | |
| NM_001318730.1:c.4734+18C>T | NP_001305659.1:n.4734+18C>T | |
| NM_001318731.1:c.4410+18C>T | NP_001305660.1:n.4410+18C>T | |
| NM_001379.3:c.4725+18C>T | NP_001370.1:n.4725+18C>T | |
| NM_001130823.3:c.4773+18C>T MANE Select | NP_001124295.1:n.4773+18C>T | |
| NM_001318730.2:c.4734+18C>T | NP_001305659.1:n.4734+18C>T | |
| NM_001318731.2:c.4410+18C>T | NP_001305660.1:n.4410+18C>T | |
| NM_001379.4:c.4725+18C>T | NP_001370.1:n.4725+18C>T |