Linked Data
ClinVar Variation Id:
582681
ClinVar RCV Id:
RCV000706813
dbSNP Id:
rs148925210
ExAC:
19:4816670 G / C
gnomAD v2:
19-4816670-G-C
gnomAD v3:
19-4816658-G-C
gnomAD v4:
19-4816658-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816658G>C , CM000681.2:g.4816658G>C | GRCh38 |
| NC_000019.9:g.4816670G>C , CM000681.1:g.4816670G>C | GRCh37 |
| NC_000019.8:g.4767670G>C | NCBI36 |
| NG_031998.1:g.20085C>G , LRG_358:g.20085C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1720C>G MANE Select | ENSP00000248244.4:p.Leu574Val | |
| ENST00000248244.5:c.1720C>G | ENSP00000248244.4:p.Leu574Val | |
| ENST00000621756.1:c.1303C>G | ENSP00000479467.1:p.Leu435Val | |
| NM_182919.3:c.1720C>G , LRG_358t1:c.1720C>G | NP_891549.1:p.Leu574Val | |
| NM_001385678.1:c.1678C>G | NP_001372607.1:p.Leu560Val | |
| NM_001385679.1:c.1585C>G | NP_001372608.1:p.Leu529Val | |
| NM_001385680.1:c.1078C>G | NP_001372609.1:p.Leu360Val | |
| NM_182919.4:c.1720C>G MANE Select | NP_891549.1:p.Leu574Val |