Linked Data
ClinVar Variation Id:
1159583
ClinVar RCV Id:
RCV001503386
dbSNP Id:
rs2129319950
COSMIC:
COSM3631789
MyVariant Identifiers:
chr7:g.107350632C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710187C>T , CM000669.2:g.107710187C>T | GRCh38 |
| NC_000007.13:g.107350632C>T , CM000669.1:g.107350632C>T | GRCh37 |
| NC_000007.12:g.107137868C>T | NCBI36 |
| NG_008489.1:g.54553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2223C>T MANE Select | ENSP00000494017.1:p.Ser741= | |
| ENST00000644846.1:c.879C>T | ||
| ENST00000265715.7:c.2223C>T | ENSP00000265715.3:p.Ser741= | |
| ENST00000492030.2:n.409C>T | ||
| NM_000441.1:c.2223C>T | NP_000432.1:p.Ser741= | |
| XM_005250425.1:c.2223C>T | XP_005250482.1:p.Ser741= | |
| XM_005250425.2:c.2223C>T | XP_005250482.1:p.Ser741= | |
| XM_017012318.1:c.2145C>T | XP_016867807.1:p.Ser715= | |
| NM_000441.2:c.2223C>T MANE Select | NP_000432.1:p.Ser741= |