Linked Data
ClinVar Variation Id:
6880
dbSNP Id:
rs137853038
COSMIC:
COSM96421
PubMed:
PMID:10700188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41137768C>T , CM000684.2:g.41137768C>T | GRCh38 |
| NC_000022.10:g.41533772C>T , CM000684.1:g.41533772C>T | GRCh37 |
| NC_000022.9:g.39863718C>T | NCBI36 |
| NG_009817.1:g.50159C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703544.1:c.1738C>T | ENSP00000515365.1:p.Arg580Ter | |
| ENST00000703545.1:c.1528C>T | ||
| ENST00000263253.9:c.1738C>T MANE Select | ENSP00000263253.7:p.Arg580Ter | |
| ENST00000674155.1:c.1738C>T | ENSP00000501078.1:p.Arg580Ter | |
| ENST00000263253.8:c.1738C>T | ENSP00000263253.7:p.Arg580Ter | |
| ENST00000634690.1:c.195+1862C>T | ||
| NM_001429.3:c.1738C>T | NP_001420.2:p.Arg580Ter | |
| XM_006724165.2:c.1738C>T | XP_006724228.1:p.Arg580Ter | |
| NM_001362843.1:c.1738C>T | NP_001349772.1:p.Arg580Ter | |
| NM_001429.4:c.1738C>T MANE Select | NP_001420.2:p.Arg580Ter | |
| NM_001362843.2:c.1738C>T | NP_001349772.1:p.Arg580Ter |