Linked Data
ClinVar Variation Id:
3044668
ClinVar RCV Id:
RCV003941842
gnomAD v4:
18-22171669-G-C
MyVariant Identifiers:
chr18:g.19751630G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171669G>C , CM000680.2:g.22171669G>C | GRCh38 |
| NC_000018.9:g.19751630G>C , CM000680.1:g.19751630G>C | GRCh37 |
| NC_000018.8:g.18005628G>C | NCBI36 |
| NG_032677.1:g.7227G>C | |
| NG_032677.2:g.7233G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.525G>C MANE Select | ENSP00000269216.3:p.Ala175= | |
| ENST00000269216.7:c.525G>C | ENSP00000269216.3:p.Ala175= | |
| ENST00000581694.1:c.525G>C | ENSP00000462313.1:p.Ala175= | |
| NM_005257.5:c.525G>C | NP_005248.2:p.Ala175= | |
| NM_005257.6:c.525G>C MANE Select | NP_005248.2:p.Ala175= |