Linked Data
ClinVar Variation Id:
486418
dbSNP Id:
rs1045881797
gnomAD v2:
1-17350557-C-T
gnomAD v3:
1-17024062-C-T
gnomAD v4:
1-17024062-C-T
COSMIC:
COSM3802896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024062C>T , CM000663.2:g.17024062C>T | GRCh38 |
| NC_000001.10:g.17350557C>T , CM000663.1:g.17350557C>T | GRCh37 |
| NC_000001.9:g.17223144C>T | NCBI36 |
| NG_012340.1:g.35109G>A , LRG_316:g.35109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.382G>A | ENSP00000481376.2:p.Glu128Lys | |
| ENST00000491274.6:c.511G>A | ENSP00000480482.2:p.Glu171Lys | |
| ENST00000375499.8:c.553G>A MANE Select | ENSP00000364649.3:p.Glu185Lys | |
| ENST00000375499.7:c.553G>A | ENSP00000364649.3:p.Glu185Lys | |
| ENST00000485515.5:n.487G>A | ||
| ENST00000491274.5:c.511G>A | ENSP00000480482.1:p.Glu171Lys | |
| NM_003000.2:c.553G>A , LRG_316t1:c.553G>A | NP_002991.2:p.Glu185Lys | |
| NM_003000.3:c.553G>A MANE Select | NP_002991.2:p.Glu185Lys |