Linked Data
ClinVar Variation Id:
789342
ClinVar RCV Id:
RCV000971956
dbSNP Id:
rs758102039
ExAC:
17:70118968 G / A
gnomAD v2:
17-70118968-G-A
gnomAD v4:
17-72122827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122827G>A , CM000679.2:g.72122827G>A | GRCh38 |
| NC_000017.10:g.70118968G>A , CM000679.1:g.70118968G>A | GRCh37 |
| NC_000017.9:g.67630563G>A | NCBI36 |
| NG_012490.1:g.6808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.540G>A MANE Select | ENSP00000245479.2:p.Lys180= | |
| ENST00000245479.2:c.540G>A | ENSP00000245479.2:p.Lys180= | |
| NM_000346.3:c.540G>A | NP_000337.1:p.Lys180= | |
| NM_000346.4:c.540G>A MANE Select | NP_000337.1:p.Lys180= |