Linked Data
ClinVar Variation Id:
350753
ClinVar RCV Id:
RCV000309768
dbSNP Id:
rs3805618
gnomAD v2:
5-127595028-G-A
gnomAD v3:
5-128259336-G-A
gnomAD v4:
5-128259336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259336G>A , CM000667.2:g.128259336G>A | GRCh38 |
| NC_000005.9:g.127595028G>A , CM000667.1:g.127595028G>A | GRCh37 |
| NC_000005.8:g.127622927G>A | NCBI36 |
| NG_008750.1:g.283708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.*119C>T MANE Select | ENSP00000262464.4:n.*119C>T | |
| ENST00000262464.8:c.*119C>T | ENSP00000262464.4:n.*119C>T | |
| ENST00000508053.5:c.*119C>T | ENSP00000424571.1:n.*119C>T | |
| ENST00000619499.4:c.8855C>T | ENSP00000482132.1:n.8855C>T | |
| NM_001999.3:c.*119C>T | NP_001990.2:n.*119C>T | |
| XM_017009228.2:c.*119C>T | XP_016864717.1:n.*119C>T | |
| NM_001999.4:c.*119C>T MANE Select | NP_001990.2:n.*119C>T |