Linked Data
ClinVar Variation Id:
350733
ClinVar RCV Id:
RCV000313697
dbSNP Id:
rs557229598
gnomAD v2:
5-127593956-G-A
gnomAD v3:
5-128258264-G-A
gnomAD v4:
5-128258264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128258264G>A , CM000667.2:g.128258264G>A | GRCh38 |
| NC_000005.9:g.127593956G>A , CM000667.1:g.127593956G>A | GRCh37 |
| NC_000005.8:g.127621855G>A | NCBI36 |
| NG_008750.1:g.284780C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.*1191C>T MANE Select | ENSP00000262464.4:n.*1191C>T | |
| ENST00000262464.8:c.*1191C>T | ENSP00000262464.4:n.*1191C>T | |
| ENST00000508053.5:c.*1191C>T | ENSP00000424571.1:n.*1191C>T | |
| ENST00000619499.4:c.9927C>T | ENSP00000482132.1:n.9927C>T | |
| NM_001999.3:c.*1191C>T | NP_001990.2:n.*1191C>T | |
| NM_001999.4:c.*1191C>T MANE Select | NP_001990.2:n.*1191C>T |