Linked Data
ClinVar Variation Id:
327901
dbSNP Id:
rs61750051
ExAC:
19:10260252 G / A
gnomAD v2:
19-10260252-G-A
gnomAD v3:
19-10149576-G-A
gnomAD v4:
19-10149576-G-A
COSMIC:
COSM1250489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10149576G>A , CM000681.2:g.10149576G>A | GRCh38 |
| NC_000019.9:g.10260252G>A , CM000681.1:g.10260252G>A | GRCh37 |
| NC_000019.8:g.10121252G>A | NCBI36 |
| NG_028016.3:g.86711C>T , LRG_362:g.86711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.2463C>T MANE Select | ENSP00000352516.3:p.Leu821= | |
| ENST00000586667.2:n.498C>T | ||
| ENST00000676604.1:n.2075C>T | ||
| ENST00000676610.1:c.2415C>T | ENSP00000504236.1:p.Leu805= | |
| ENST00000676820.1:n.2471C>T | ||
| ENST00000676868.1:n.3099C>T | ||
| ENST00000677013.1:c.*2105C>T | ENSP00000503135.1:n.*2105C>T | |
| ENST00000677250.1:c.*1535C>T | ENSP00000502894.1:n.*1535C>T | |
| ENST00000677616.1:c.2106C>T | ENSP00000503055.1:p.Leu702= | |
| ENST00000677634.1:c.2415C>T | ENSP00000504246.1:p.Leu805= | |
| ENST00000677685.1:c.*1640C>T | ENSP00000503407.1:n.*1640C>T | |
| ENST00000677783.1:n.2885C>T | ||
| ENST00000677946.1:c.2415C>T | ENSP00000504202.1:p.Leu805= | |
| ENST00000678024.1:n.2558C>T | ||
| ENST00000678647.1:n.548C>T | ||
| ENST00000678694.1:n.1736C>T | ||
| ENST00000678804.1:c.2415C>T | ENSP00000503853.1:p.Leu805= | |
| ENST00000679100.1:n.602C>T | ||
| ENST00000679103.1:c.2415C>T | ENSP00000503151.1:p.Leu805= | |
| ENST00000679313.1:c.2415C>T | ENSP00000504512.1:p.Leu805= | |
| ENST00000340748.8:c.2415C>T | ENSP00000345739.3:p.Leu805= | |
| ENST00000359526.8:c.2463C>T | ENSP00000352516.3:p.Leu821= | |
| ENST00000540357.5:c.1407C>T | ENSP00000440457.2:p.Leu469= | |
| ENST00000586667.1:n.498C>T | ||
| ENST00000592705.5:c.*2153C>T | ENSP00000466657.1:n.*2153C>T | |
| NM_001130823.1:c.2463C>T , LRG_362t1:c.2463C>T | NP_001124295.1:p.Leu821= | |
| NM_001379.2:c.2415C>T | NP_001370.1:p.Leu805= | |
| XM_011527772.1:c.2463C>T | XP_011526074.1:p.Leu821= | |
| XM_011527773.1:c.2415C>T | XP_011526075.1:p.Leu805= | |
| XM_011527774.1:c.2052C>T | XP_011526076.1:p.Leu684= | |
| NM_001130823.2:c.2463C>T | NP_001124295.1:p.Leu821= | |
| NM_001318730.1:c.2415C>T | NP_001305659.1:p.Leu805= | |
| NM_001318731.1:c.2100C>T | NP_001305660.1:p.Leu700= | |
| NM_001379.3:c.2415C>T | NP_001370.1:p.Leu805= | |
| NM_001130823.3:c.2463C>T MANE Select | NP_001124295.1:p.Leu821= | |
| NM_001318730.2:c.2415C>T | NP_001305659.1:p.Leu805= | |
| NM_001318731.2:c.2100C>T | NP_001305660.1:p.Leu700= | |
| NM_001379.4:c.2415C>T | NP_001370.1:p.Leu805= |