Linked Data
dbSNP Id:
rs2143245604
gnomAD v4:
17-72122776-G-A
MyVariant Identifiers:
chr17:g.70118917G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122776G>A , CM000679.2:g.72122776G>A | GRCh38 |
| NC_000017.10:g.70118917G>A , CM000679.1:g.70118917G>A | GRCh37 |
| NC_000017.9:g.67630512G>A | NCBI36 |
| NG_012490.1:g.6757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.489G>A MANE Select | ENSP00000245479.2:p.Val163= | |
| ENST00000245479.2:c.489G>A | ENSP00000245479.2:p.Val163= | |
| NM_000346.3:c.489G>A | NP_000337.1:p.Val163= | |
| NM_000346.4:c.489G>A MANE Select | NP_000337.1:p.Val163= |