Linked Data
dbSNP Id:
rs1040106193
gnomAD v4:
17-72123553-G-A
MyVariant Identifiers:
chr17:g.70119694G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123553G>A , CM000679.2:g.72123553G>A | GRCh38 |
| NC_000017.10:g.70119694G>A , CM000679.1:g.70119694G>A | GRCh37 |
| NC_000017.9:g.67631289G>A | NCBI36 |
| NG_012490.1:g.7534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.696G>A MANE Select | ENSP00000245479.2:p.Gln232= | |
| ENST00000245479.2:c.696G>A | ENSP00000245479.2:p.Gln232= | |
| NM_000346.3:c.696G>A | NP_000337.1:p.Gln232= | |
| NM_000346.4:c.696G>A MANE Select | NP_000337.1:p.Gln232= |