Linked Data
ClinVar Variation Id:
1906461
ClinVar RCV Id:
RCV002589045
dbSNP Id:
rs753498364
ExAC:
19:4816524 G / A
gnomAD v2:
19-4816524-G-A
gnomAD v3:
19-4816512-G-A
gnomAD v4:
19-4816512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816512G>A , CM000681.2:g.4816512G>A | GRCh38 |
| NC_000019.9:g.4816524G>A , CM000681.1:g.4816524G>A | GRCh37 |
| NC_000019.8:g.4767524G>A | NCBI36 |
| NG_031998.1:g.20231C>T , LRG_358:g.20231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1866C>T MANE Select | ENSP00000248244.4:p.Pro622= | |
| ENST00000248244.5:c.1866C>T | ENSP00000248244.4:p.Pro622= | |
| ENST00000621756.1:c.1449C>T | ENSP00000479467.1:p.Pro483= | |
| NM_182919.3:c.1866C>T , LRG_358t1:c.1866C>T | NP_891549.1:p.Pro622= | |
| NM_001385678.1:c.1824C>T | NP_001372607.1:p.Pro608= | |
| NM_001385679.1:c.1731C>T | NP_001372608.1:p.Pro577= | |
| NM_001385680.1:c.1224C>T | NP_001372609.1:p.Pro408= | |
| NM_182919.4:c.1866C>T MANE Select | NP_891549.1:p.Pro622= |