Linked Data
ClinVar Variation Id:
458491
ClinVar RCV Id:
RCV000557118
dbSNP Id:
rs759197788
ExAC:
8:30924632 C / A
gnomAD v2:
8-30924632-C-A
gnomAD v4:
8-31067116-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067116C>A , CM000670.2:g.31067116C>A | GRCh38 |
| NC_000008.10:g.30924632C>A , CM000670.1:g.30924632C>A | GRCh37 |
| NC_000008.9:g.31044174C>A | NCBI36 |
| NG_008870.1:g.38855C>A , LRG_524:g.38855C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.588C>A MANE Select | ENSP00000298139.5:p.Arg196= | |
| ENST00000650667.1:c.*202C>A | ENSP00000498593.1:n.*202C>A | |
| ENST00000298139.5:c.588C>A | ENSP00000298139.5:p.Arg196= | |
| NM_000553.4:c.588C>A , LRG_524t1:c.588C>A | NP_000544.2:p.Arg196= | |
| XM_011544639.1:c.588C>A | XP_011542941.1:p.Arg196= | |
| XR_949470.1:n.861C>A | ||
| XR_949471.1:n.861C>A | ||
| XR_949472.1:n.861C>A | ||
| NM_000553.5:c.588C>A | NP_000544.2:p.Arg196= | |
| XM_011544639.3:c.588C>A | XP_011542941.1:p.Arg196= | |
| XM_024447265.1:c.378C>A | XP_024303033.1:p.Arg126= | |
| XR_949470.3:n.889C>A | ||
| XR_949471.3:n.889C>A | ||
| XR_949472.3:n.889C>A | ||
| NM_000553.6:c.588C>A MANE Select | NP_000544.2:p.Arg196= |