Linked Data
ClinVar Variation Id:
2167822
ClinVar RCV Id:
RCV003086639
dbSNP Id:
rs576407061
ExAC:
15:90631593 C / T
gnomAD v2:
15-90631593-C-T
gnomAD v3:
15-90088361-C-T
gnomAD v4:
15-90088361-C-T
COSMIC:
COSM4384861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088361C>T , CM000677.2:g.90088361C>T | GRCh38 |
| NC_000015.9:g.90631593C>T , CM000677.1:g.90631593C>T | GRCh37 |
| NC_000015.8:g.88432597C>T | NCBI36 |
| NG_023302.1:g.19116G>A , LRG_611:g.19116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.676G>A MANE Select | ENSP00000331897.4:p.Glu226Lys | |
| ENST00000330062.7:c.676G>A | ENSP00000331897.3:p.Glu226Lys | |
| ENST00000540499.2:c.520G>A | ENSP00000446147.2:p.Glu174Lys | |
| ENST00000559482.5:c.349G>A | ENSP00000453016.1:p.Glu117Lys | |
| ENST00000560061.1:c.*301G>A | ENSP00000453254.1:n.*301G>A | |
| NM_001289910.1:c.520G>A , LRG_611t1:c.520G>A | NP_001276839.1:p.Glu174Lys | |
| NM_001290114.1:c.286G>A | NP_001277043.1:p.Glu96Lys | |
| NM_002168.3:c.676G>A , LRG_611t2:c.676G>A | NP_002159.2:p.Glu226Lys | |
| NM_001290114.2:c.286G>A | NP_001277043.1:p.Glu96Lys | |
| NM_002168.4:c.676G>A MANE Select | NP_002159.2:p.Glu226Lys |