Linked Data
ClinVar Variation Id:
255306
ClinVar RCV Id:
RCV000245988
RCV000631925
RCV000663879
RCV001118927
RCV001118923
RCV001118924
RCV001118925
RCV001118926
RCV001561438
dbSNP Id:
rs201361628
ExAC:
15:48726830 C / T
gnomAD v2:
15-48726830-C-T
gnomAD v3:
15-48434633-C-T
gnomAD v4:
15-48434633-C-T
COSMIC:
COSM1206711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434633C>T , CM000677.2:g.48434633C>T | GRCh38 |
| NC_000015.9:g.48726830C>T , CM000677.1:g.48726830C>T | GRCh37 |
| NC_000015.8:g.46514122C>T | NCBI36 |
| NG_008805.2:g.216156G>A , LRG_778:g.216156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6577G>A | ENSP00000453958.2:p.Glu2193Lys | |
| ENST00000674301.2:c.6577G>A | ENSP00000501333.2:p.Glu2193Lys | |
| ENST00000682170.1:n.186G>A | ||
| ENST00000316623.10:c.6577G>A MANE Select | ENSP00000325527.5:p.Glu2193Lys | |
| ENST00000674301.1:c.1576G>A | ENSP00000501333.1:p.Glu526Lys | |
| ENST00000316623.9:c.6577G>A | ENSP00000325527.5:p.Glu2193Lys | |
| ENST00000537463.6:c.*2340G>A | ENSP00000440294.2:n.*2340G>A | |
| ENST00000559133.5:c.1884G>A | ||
| NM_000138.4:c.6577G>A , LRG_778t1:c.6577G>A | NP_000129.3:p.Glu2193Lys | |
| NM_000138.5:c.6577G>A MANE Select | NP_000129.3:p.Glu2193Lys |