Linked Data
ClinVar Variation Id:
1161769
ClinVar RCV Id:
RCV001506417
dbSNP Id:
rs2092905675
gnomAD v4:
17-42536287-G-T
COSMIC:
COSM5677722
MyVariant Identifiers:
chr17:g.40688305G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536287G>T , CM000679.2:g.42536287G>T | GRCh38 |
| NC_000017.10:g.40688305G>T , CM000679.1:g.40688305G>T | GRCh37 |
| NC_000017.9:g.37941831G>T | NCBI36 |
| NG_011552.1:g.5355G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.15G>T MANE Select | ENSP00000225927.1:p.Ala5= | |
| ENST00000225927.6:c.15G>T | ENSP00000225927.1:p.Ala5= | |
| NM_000263.3:c.15G>T | NP_000254.2:p.Ala5= | |
| XM_024450771.1:c.15G>T | XP_024306539.1:p.Ala5= | |
| NM_000263.4:c.15G>T MANE Select | NP_000254.2:p.Ala5= |