Linked Data
ClinVar Variation Id:
725387
dbSNP Id:
rs373612587
ExAC:
2:241812438 C / T
gnomAD v2:
2-241812438-C-T
gnomAD v3:
2-240873021-C-T
gnomAD v4:
2-240873021-C-T
COSMIC:
COSM2909945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873021C>T , CM000664.2:g.240873021C>T | GRCh38 |
| NC_000002.11:g.241812438C>T , CM000664.1:g.241812438C>T | GRCh37 |
| NC_000002.10:g.241461111C>T | NCBI36 |
| NG_008005.1:g.9277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.567C>T MANE Select | ENSP00000302620.3:p.Gly189= | |
| ENST00000307503.3:c.567C>T | ENSP00000302620.3:p.Gly189= | |
| ENST00000472436.1:n.587C>T | ||
| ENST00000476698.1:n.304C>T | ||
| NM_000030.2:c.567C>T | NP_000021.1:p.Gly189= | |
| NM_000030.3:c.567C>T MANE Select | NP_000021.1:p.Gly189= |