Linked Data
ClinVar Variation Id:
213123
dbSNP Id:
rs863223497
gnomAD v4:
2-189036803-C-T
COSMIC:
COSM4894943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189036803C>T , CM000664.2:g.189036803C>T | GRCh38 |
| NC_000002.11:g.189901529C>T , CM000664.1:g.189901529C>T | GRCh37 |
| NC_000002.10:g.189609774C>T | NCBI36 |
| NG_011799.1:g.148077G>A | |
| NG_011799.2:g.148077G>A | |
| NG_011799.3:g.193499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3926G>A MANE Select | ENSP00000364000.3:p.Gly1309Asp | |
| ENST00000374866.7:c.3926G>A | ENSP00000364000.3:p.Gly1309Asp | |
| ENST00000618828.1:c.2765G>A | ENSP00000482184.1:p.Gly922Asp | |
| NM_000393.3:c.3926G>A | NP_000384.2:p.Gly1309Asp | |
| XM_011510573.1:c.3788G>A | XP_011508875.1:p.Gly1263Asp | |
| NM_000393.4:c.3926G>A | NP_000384.2:p.Gly1309Asp | |
| XM_011510573.3:c.3788G>A | XP_011508875.1:p.Gly1263Asp | |
| NM_000393.5:c.3926G>A MANE Select | NP_000384.2:p.Gly1309Asp |