Linked Data
ClinVar Variation Id:
945602
ClinVar RCV Id:
RCV001216275
dbSNP Id:
rs1845865147
gnomAD v4:
9-130471504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130471504G>A , CM000671.2:g.130471504G>A | GRCh38 |
| NC_000009.11:g.133346891G>A , CM000671.1:g.133346891G>A | GRCh37 |
| NC_000009.10:g.132336712G>A | NCBI36 |
| NG_011542.1:g.31798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.586G>A MANE Select | ENSP00000253004.6:p.Glu196Lys | |
| ENST00000352480.9:c.586G>A | ENSP00000253004.6:p.Glu196Lys | |
| ENST00000372393.7:c.586G>A | ENSP00000361469.2:p.Glu196Lys | |
| ENST00000372394.5:c.586G>A | ENSP00000361471.1:p.Glu196Lys | |
| ENST00000422569.5:c.586G>A | ENSP00000394212.1:p.Glu196Lys | |
| ENST00000443588.1:c.529G>A | ENSP00000397785.1:p.Glu177Lys | |
| ENST00000467695.5:n.295G>A | ||
| ENST00000493984.6:n.417G>A | ||
| NM_000050.4:c.586G>A | NP_000041.2:p.Glu196Lys | |
| NM_054012.3:c.586G>A | NP_446464.1:p.Glu196Lys | |
| XM_005272200.2:c.586G>A | XP_005272257.1:p.Glu196Lys | |
| XM_011518705.1:c.700G>A | XP_011517007.1:p.Glu234Lys | |
| XM_005272200.3:c.586G>A | XP_005272257.1:p.Glu196Lys | |
| XM_011518705.2:c.700G>A | XP_011517007.1:p.Glu234Lys | |
| XM_017014729.1:c.682G>A | XP_016870218.1:p.Glu228Lys | |
| NM_054012.4:c.586G>A MANE Select | NP_446464.1:p.Glu196Lys |