Linked Data
ClinVar Variation Id:
1903888
dbSNP Id:
rs554787241
ExAC:
3:93615521 G / A
gnomAD v2:
3-93615521-G-A
gnomAD v3:
3-93896677-G-A
gnomAD v4:
3-93896677-G-A
COSMIC:
COSM6165529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896677G>A , CM000665.2:g.93896677G>A | GRCh38 |
| NC_000003.11:g.93615521G>A , CM000665.1:g.93615521G>A | GRCh37 |
| NC_000003.10:g.95098211G>A | NCBI36 |
| NG_009813.1:g.82414C>T , LRG_572:g.82414C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.864C>T | ENSP00000330021.7:p.Cys288= | |
| ENST00000394236.9:c.864C>T MANE Select | ENSP00000377783.3:p.Cys288= | |
| ENST00000407433.6:c.819C>T | ENSP00000385794.2:p.Cys273= | |
| ENST00000647936.1:c.864C>T | ENSP00000496822.1:p.Cys288= | |
| ENST00000648381.1:n.1032C>T | ||
| ENST00000648853.1:c.822C>T | ENSP00000497262.1:p.Cys274= | |
| ENST00000649103.1:c.963C>T | ENSP00000497962.1:n.963C>T | |
| ENST00000650591.1:c.960C>T | ENSP00000497376.1:p.Cys320= | |
| ENST00000394236.7:c.864C>T | ENSP00000377783.3:p.Cys288= | |
| ENST00000407433.5:c.471C>T | ENSP00000385794.1:p.Cys157= | |
| NM_000313.3:c.864C>T , LRG_572t1:c.864C>T | NP_000304.2:p.Cys288= | |
| NM_001314077.1:c.960C>T , LRG_572t2:c.960C>T | NP_001301006.1:p.Cys320= | |
| NM_000313.4:c.864C>T MANE Select | NP_000304.2:p.Cys288= | |
| NM_001314077.2:c.960C>T | NP_001301006.1:p.Cys320= |