Linked Data
ClinVar Variation Id:
350743
ClinVar RCV Id:
RCV000372113
dbSNP Id:
rs27858
gnomAD v2:
5-127594512-T-C
gnomAD v3:
5-128258820-T-C
gnomAD v4:
5-128258820-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128258820T>C , CM000667.2:g.128258820T>C | GRCh38 |
| NC_000005.9:g.127594512T>C , CM000667.1:g.127594512T>C | GRCh37 |
| NC_000005.8:g.127622411T>C | NCBI36 |
| NG_008750.1:g.284224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.*635A>G MANE Select | ENSP00000262464.4:n.*635A>G | |
| ENST00000262464.8:c.*635A>G | ENSP00000262464.4:n.*635A>G | |
| ENST00000508053.5:c.*635A>G | ENSP00000424571.1:n.*635A>G | |
| ENST00000619499.4:c.9371A>G | ENSP00000482132.1:n.9371A>G | |
| NM_001999.3:c.*635A>G | NP_001990.2:n.*635A>G | |
| NM_001999.4:c.*635A>G MANE Select | NP_001990.2:n.*635A>G |