Linked Data
ClinVar Variation Id:
2957257
ClinVar RCV Id:
RCV003818944
dbSNP Id:
rs751093624
ExAC:
19:10267124 C / T
gnomAD v2:
19-10267124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156448C>T , CM000681.2:g.10156448C>T | GRCh38 |
| NC_000019.9:g.10267124C>T , CM000681.1:g.10267124C>T | GRCh37 |
| NC_000019.8:g.10128124C>T | NCBI36 |
| NG_028016.3:g.79839G>A , LRG_362:g.79839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1342G>A MANE Select | ENSP00000352516.3:p.Glu448Lys | |
| ENST00000676604.1:n.954G>A | ||
| ENST00000676610.1:c.1294G>A | ENSP00000504236.1:p.Glu432Lys | |
| ENST00000676820.1:n.1350G>A | ||
| ENST00000676868.1:n.1978G>A | ||
| ENST00000677013.1:c.*984G>A | ENSP00000503135.1:n.*984G>A | |
| ENST00000677250.1:c.*414G>A | ENSP00000502894.1:n.*414G>A | |
| ENST00000677616.1:c.985G>A | ENSP00000503055.1:p.Glu329Lys | |
| ENST00000677634.1:c.1294G>A | ENSP00000504246.1:p.Glu432Lys | |
| ENST00000677685.1:c.*519G>A | ENSP00000503407.1:n.*519G>A | |
| ENST00000677783.1:n.1764G>A | ||
| ENST00000677946.1:c.1294G>A | ENSP00000504202.1:p.Glu432Lys | |
| ENST00000678024.1:n.1437G>A | ||
| ENST00000678694.1:n.615G>A | ||
| ENST00000678804.1:c.1294G>A | ENSP00000503853.1:p.Glu432Lys | |
| ENST00000679103.1:c.1294G>A | ENSP00000503151.1:p.Glu432Lys | |
| ENST00000679313.1:c.1294G>A | ENSP00000504512.1:p.Glu432Lys | |
| ENST00000340748.8:c.1294G>A | ENSP00000345739.3:p.Glu432Lys | |
| ENST00000359526.8:c.1342G>A | ENSP00000352516.3:p.Glu448Lys | |
| ENST00000540357.5:c.286G>A | ENSP00000440457.2:p.Glu96Lys | |
| ENST00000585843.1:n.499G>A | ||
| ENST00000592705.5:c.*1032G>A | ENSP00000466657.1:n.*1032G>A | |
| NM_001130823.1:c.1342G>A , LRG_362t1:c.1342G>A | NP_001124295.1:p.Glu448Lys | |
| NM_001379.2:c.1294G>A | NP_001370.1:p.Glu432Lys | |
| XM_011527772.1:c.1342G>A | XP_011526074.1:p.Glu448Lys | |
| XM_011527773.1:c.1294G>A | XP_011526075.1:p.Glu432Lys | |
| XM_011527774.1:c.931G>A | XP_011526076.1:p.Glu311Lys | |
| NM_001130823.2:c.1342G>A | NP_001124295.1:p.Glu448Lys | |
| NM_001318730.1:c.1294G>A | NP_001305659.1:p.Glu432Lys | |
| NM_001318731.1:c.979G>A | NP_001305660.1:p.Glu327Lys | |
| NM_001379.3:c.1294G>A | NP_001370.1:p.Glu432Lys | |
| NM_001130823.3:c.1342G>A MANE Select | NP_001124295.1:p.Glu448Lys | |
| NM_001318730.2:c.1294G>A | NP_001305659.1:p.Glu432Lys | |
| NM_001318731.2:c.979G>A | NP_001305660.1:p.Glu327Lys | |
| NM_001379.4:c.1294G>A | NP_001370.1:p.Glu432Lys |