Linked Data
ClinVar Variation Id:
1157740
ClinVar RCV Id:
RCV001500881
dbSNP Id:
rs2113060490
MyVariant Identifiers:
chr5:g.177420001T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993000T>C , CM000667.2:g.177993000T>C | GRCh38 |
| NC_000005.9:g.177420001T>C , CM000667.1:g.177420001T>C | GRCh37 |
| NC_000005.8:g.177352607T>C | NCBI36 |
| NG_015889.1:g.8243A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308304.2:c.390A>G MANE Select | ENSP00000311290.2:p.Ser130= | |
| NM_006261.4:c.390A>G | NP_006252.3:p.Ser130= | |
| NM_006261.5:c.390A>G MANE Select | NP_006252.4:p.Ser130= |