Linked Data
ClinVar Variation Id:
298030
ClinVar RCV Id:
RCV000335352
dbSNP Id:
rs886046511
gnomAD v4:
1-70421600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70421600A>G , CM000663.2:g.70421600A>G | GRCh38 |
| NC_000001.10:g.70887283A>G , CM000663.1:g.70887283A>G | GRCh37 |
| NC_000001.9:g.70659871A>G | NCBI36 |
| NG_008041.1:g.15329A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.381A>G MANE Select | ENSP00000359976.3:p.Glu127= | |
| ENST00000346806.2:c.381A>G | ENSP00000311554.2:p.Glu127= | |
| ENST00000370938.7:c.381A>G | ENSP00000359976.3:p.Glu127= | |
| ENST00000411986.6:c.285A>G | ENSP00000413407.2:p.Glu95= | |
| ENST00000464926.1:n.429A>G | ||
| NM_001190463.1:c.285A>G | NP_001177392.1:p.Glu95= | |
| NM_001902.5:c.381A>G | NP_001893.2:p.Glu127= | |
| NM_153742.4:c.381A>G | NP_714964.2:p.Glu127= | |
| XM_005270509.2:c.54A>G | XP_005270566.1:p.Glu18= | |
| XM_011540787.1:c.-248A>G | XP_011539089.1:n.-248A>G | |
| XM_005270509.3:c.54A>G | XP_005270566.1:p.Glu18= | |
| NM_001902.6:c.381A>G MANE Select | NP_001893.2:p.Glu127= | |
| NM_001190463.2:c.285A>G | NP_001177392.1:p.Glu95= | |
| NM_153742.5:c.381A>G | NP_714964.2:p.Glu127= |