Linked Data
ClinVar Variation Id:
327912
dbSNP Id:
rs199584370
ExAC:
19:10270390 G / A
gnomAD v2:
19-10270390-G-A
gnomAD v3:
19-10159714-G-A
gnomAD v4:
19-10159714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10159714G>A , CM000681.2:g.10159714G>A | GRCh38 |
| NC_000019.9:g.10270390G>A , CM000681.1:g.10270390G>A | GRCh37 |
| NC_000019.8:g.10131390G>A | NCBI36 |
| NG_028016.3:g.76573C>T , LRG_362:g.76573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1224C>T MANE Select | ENSP00000352516.3:p.Asn408= | |
| ENST00000676604.1:n.836C>T | ||
| ENST00000676610.1:c.1176C>T | ENSP00000504236.1:p.Asn392= | |
| ENST00000676820.1:n.1232C>T | ||
| ENST00000676868.1:n.1860C>T | ||
| ENST00000677013.1:c.*866C>T | ENSP00000503135.1:n.*866C>T | |
| ENST00000677250.1:c.*296C>T | ENSP00000502894.1:n.*296C>T | |
| ENST00000677616.1:c.867C>T | ENSP00000503055.1:p.Asn289= | |
| ENST00000677634.1:c.1176C>T | ENSP00000504246.1:p.Asn392= | |
| ENST00000677685.1:c.*401C>T | ENSP00000503407.1:n.*401C>T | |
| ENST00000677783.1:n.1646C>T | ||
| ENST00000677946.1:c.1176C>T | ENSP00000504202.1:p.Asn392= | |
| ENST00000678024.1:n.1319C>T | ||
| ENST00000678694.1:n.497C>T | ||
| ENST00000678804.1:c.1176C>T | ENSP00000503853.1:p.Asn392= | |
| ENST00000679103.1:c.1176C>T | ENSP00000503151.1:p.Asn392= | |
| ENST00000679313.1:c.1176C>T | ENSP00000504512.1:p.Asn392= | |
| ENST00000340748.8:c.1176C>T | ENSP00000345739.3:p.Asn392= | |
| ENST00000359526.8:c.1224C>T | ENSP00000352516.3:p.Asn408= | |
| ENST00000540357.5:c.168C>T | ENSP00000440457.2:p.Asn56= | |
| ENST00000585843.1:n.381C>T | ||
| ENST00000592705.5:c.*914C>T | ENSP00000466657.1:n.*914C>T | |
| NM_001130823.1:c.1224C>T , LRG_362t1:c.1224C>T | NP_001124295.1:p.Asn408= | |
| NM_001379.2:c.1176C>T | NP_001370.1:p.Asn392= | |
| XM_011527772.1:c.1224C>T | XP_011526074.1:p.Asn408= | |
| XM_011527773.1:c.1176C>T | XP_011526075.1:p.Asn392= | |
| XM_011527774.1:c.813C>T | XP_011526076.1:p.Asn271= | |
| NM_001130823.2:c.1224C>T | NP_001124295.1:p.Asn408= | |
| NM_001318730.1:c.1176C>T | NP_001305659.1:p.Asn392= | |
| NM_001318731.1:c.861C>T | NP_001305660.1:p.Asn287= | |
| NM_001379.3:c.1176C>T | NP_001370.1:p.Asn392= | |
| NM_001130823.3:c.1224C>T MANE Select | NP_001124295.1:p.Asn408= | |
| NM_001318730.2:c.1176C>T | NP_001305659.1:p.Asn392= | |
| NM_001318731.2:c.861C>T | NP_001305660.1:p.Asn287= | |
| NM_001379.4:c.1176C>T | NP_001370.1:p.Asn392= |