Linked Data
ClinVar Variation Id:
2804795
ClinVar RCV Id:
RCV003684288
dbSNP Id:
rs1772668664
MyVariant Identifiers:
chr5:g.177419818A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992817A>G , CM000667.2:g.177992817A>G | GRCh38 |
| NC_000005.9:g.177419818A>G , CM000667.1:g.177419818A>G | GRCh37 |
| NC_000005.8:g.177352424A>G | NCBI36 |
| NG_015889.1:g.8426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.573T>C MANE Select | ENSP00000311290.2:p.Ser191= | |
| NM_006261.4:c.573T>C | NP_006252.3:p.Ser191= | |
| NM_006261.5:c.573T>C MANE Select | NP_006252.4:p.Ser191= |