Linked Data
ClinVar Variation Id:
2724492
ClinVar RCV Id:
RCV003561704
dbSNP Id:
rs2065090761
gnomAD v4:
17-47283371-A-G
MyVariant Identifiers:
chr17:g.45360737A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283371A>G , CM000679.2:g.47283371A>G | GRCh38 |
| NC_000017.10:g.45360737A>G , CM000679.1:g.45360737A>G | GRCh37 |
| NC_000017.9:g.42715736A>G | NCBI36 |
| NG_008332.2:g.34530A>G , LRG_481:g.34530A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696963.1:c.183A>G | ENSP00000513002.1:p.Ser61= | |
| ENST00000559488.7:c.183A>G MANE Select | ENSP00000452786.2:p.Ser61= | |
| ENST00000559488.5:c.183A>G | ENSP00000452786.1:p.Ser61= | |
| ENST00000560629.1:c.148A>G | ||
| ENST00000571680.1:c.183A>G | ENSP00000461626.1:p.Ser61= | |
| NM_000212.2:c.183A>G , LRG_481t1:c.183A>G | NP_000203.2:p.Ser61= | |
| NM_000212.3:c.183A>G MANE Select | NP_000203.2:p.Ser61= |