Linked Data
ClinVar Variation Id:
1421629
ClinVar RCV Id:
RCV001917016
dbSNP Id:
rs537938359
gnomAD v2:
3-93615476-C-T
gnomAD v3:
3-93896632-C-T
gnomAD v4:
3-93896632-C-T
COSMIC:
COSM1263152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896632C>T , CM000665.2:g.93896632C>T | GRCh38 |
| NC_000003.11:g.93615476C>T , CM000665.1:g.93615476C>T | GRCh37 |
| NC_000003.10:g.95098166C>T | NCBI36 |
| NG_009813.1:g.82459G>A , LRG_572:g.82459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.909G>A | ENSP00000330021.7:p.Ala303= | |
| ENST00000394236.9:c.909G>A MANE Select | ENSP00000377783.3:p.Ala303= | |
| ENST00000407433.6:c.864G>A | ENSP00000385794.2:p.Ala288= | |
| ENST00000647936.1:c.909G>A | ENSP00000496822.1:p.Ala303= | |
| ENST00000648381.1:n.1077G>A | ||
| ENST00000648853.1:c.867G>A | ENSP00000497262.1:p.Ala289= | |
| ENST00000649103.1:c.1008G>A | ENSP00000497962.1:n.1008G>A | |
| ENST00000650591.1:c.1005G>A | ENSP00000497376.1:p.Ala335= | |
| ENST00000394236.7:c.909G>A | ENSP00000377783.3:p.Ala303= | |
| ENST00000407433.5:c.516G>A | ENSP00000385794.1:p.Ala172= | |
| NM_000313.3:c.909G>A , LRG_572t1:c.909G>A | NP_000304.2:p.Ala303= | |
| NM_001314077.1:c.1005G>A , LRG_572t2:c.1005G>A | NP_001301006.1:p.Ala335= | |
| NM_000313.4:c.909G>A MANE Select | NP_000304.2:p.Ala303= | |
| NM_001314077.2:c.1005G>A | NP_001301006.1:p.Ala335= |