Linked Data
ClinVar Variation Id:
265401
ClinVar RCV Id:
RCV000254863
RCV000590228
RCV000663557
RCV000767971
RCV000810561
RCV001374789
RCV000507994
RCV000614836
dbSNP Id:
rs140583
gnomAD v4:
15-48495219-G-A
COSMIC:
COSM4950210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48495219G>A , CM000677.2:g.48495219G>A | GRCh38 |
| NC_000015.9:g.48787416G>A , CM000677.1:g.48787416G>A | GRCh37 |
| NC_000015.8:g.46574708G>A | NCBI36 |
| NG_008805.2:g.155570C>T , LRG_778:g.155570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2581C>T | ENSP00000453958.2:p.Arg861Ter | |
| ENST00000674301.2:c.2581C>T | ENSP00000501333.2:p.Arg861Ter | |
| ENST00000684448.1:n.1255C>T | ||
| ENST00000316623.10:c.2581C>T MANE Select | ENSP00000325527.5:p.Arg861Ter | |
| ENST00000316623.9:c.2581C>T | ENSP00000325527.5:p.Arg861Ter | |
| ENST00000537463.6:c.637-20569C>T | ENSP00000440294.2:n.637-20569C>T | |
| NM_000138.4:c.2581C>T , LRG_778t1:c.2581C>T | NP_000129.3:p.Arg861Ter | |
| NM_000138.5:c.2581C>T MANE Select | NP_000129.3:p.Arg861Ter |