Linked Data
ClinVar Variation Id:
241952
ClinVar RCV Id:
RCV001454570
dbSNP Id:
rs775009764
gnomAD v4:
19-16482684-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16482684C>A , CM000681.2:g.16482684C>A | GRCh38 |
| NC_000019.9:g.16593495C>A , CM000681.1:g.16593495C>A | GRCh37 |
| NC_000019.8:g.16454495C>A | NCBI36 |
| NG_031959.2:g.150521G>T , LRG_422:g.150521G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269881.8:c.780G>T MANE Select | ENSP00000269881.3:p.Pro260= | |
| ENST00000269881.7:c.780G>T | ENSP00000269881.2:p.Pro260= | |
| ENST00000409035.1:c.*583G>T | ENSP00000386951.2:n.*583G>T | |
| ENST00000602234.1:n.454G>T | ||
| NM_145046.4:c.780G>T , LRG_422t1:c.780G>T | NP_659483.2:p.Pro260= | |
| NM_145046.5:c.780G>T MANE Select | NP_659483.2:p.Pro260= |