Linked Data
ClinVar Variation Id:
996599
ClinVar RCV Id:
RCV001291127
dbSNP Id:
rs602662
ExAC:
19:49206985 G / A
gnomAD v2:
19-49206985-G-A
gnomAD v3:
19-48703728-G-A
gnomAD v4:
19-48703728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703728G>A , CM000681.2:g.48703728G>A | GRCh38 |
| NC_000019.9:g.49206985G>A , CM000681.1:g.49206985G>A | GRCh37 |
| NC_000019.8:g.53898797G>A | NCBI36 |
| NG_007511.1:g.12758G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425340.3:c.772G>A MANE Select | ENSP00000387498.2:p.Gly258Ser | |
| ENST00000522966.2:c.772G>A | ENSP00000430227.2:p.Gly258Ser | |
| ENST00000391876.5:c.772G>A | ENSP00000375748.4:p.Gly258Ser | |
| ENST00000425340.2:c.772G>A | ENSP00000387498.2:p.Gly258Ser | |
| NM_000511.5:c.772G>A | NP_000502.4:p.Gly258Ser | |
| NM_001097638.2:c.772G>A | NP_001091107.1:p.Gly258Ser | |
| NR_131188.1:n.121C>T | ||
| NM_000511.6:c.772G>A MANE Select | NP_000502.4:p.Gly258Ser | |
| NM_001097638.3:c.772G>A | NP_001091107.1:p.Gly258Ser |