Linked Data
ClinVar Variation Id:
195066
ClinVar RCV Id:
RCV000175587
dbSNP Id:
rs202115157
ExAC:
17:70118947 G / A
gnomAD v2:
17-70118947-G-A
gnomAD v3:
17-72122806-G-A
gnomAD v4:
17-72122806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122806G>A , CM000679.2:g.72122806G>A | GRCh38 |
| NC_000017.10:g.70118947G>A , CM000679.1:g.70118947G>A | GRCh37 |
| NC_000017.9:g.67630542G>A | NCBI36 |
| NG_012490.1:g.6787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.519G>A MANE Select | ENSP00000245479.2:p.Lys173= | |
| ENST00000245479.2:c.519G>A | ENSP00000245479.2:p.Lys173= | |
| NM_000346.3:c.519G>A | NP_000337.1:p.Lys173= | |
| NM_000346.4:c.519G>A MANE Select | NP_000337.1:p.Lys173= |