Linked Data
ClinVar Variation Id:
2062604
ClinVar RCV Id:
RCV002957858
dbSNP Id:
rs774037288
gnomAD v2:
19-4816751-G-C
gnomAD v4:
19-4816739-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816739G>C , CM000681.2:g.4816739G>C | GRCh38 |
| NC_000019.9:g.4816751G>C , CM000681.1:g.4816751G>C | GRCh37 |
| NC_000019.8:g.4767751G>C | NCBI36 |
| NG_031998.1:g.20004C>G , LRG_358:g.20004C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1639C>G MANE Select | ENSP00000248244.4:p.Arg547Gly | |
| ENST00000248244.5:c.1639C>G | ENSP00000248244.4:p.Arg547Gly | |
| ENST00000621756.1:c.1222C>G | ENSP00000479467.1:p.Arg408Gly | |
| NM_182919.3:c.1639C>G , LRG_358t1:c.1639C>G | NP_891549.1:p.Arg547Gly | |
| NM_001385678.1:c.1597C>G | NP_001372607.1:p.Arg533Gly | |
| NM_001385679.1:c.1504C>G | NP_001372608.1:p.Arg502Gly | |
| NM_001385680.1:c.997C>G | NP_001372609.1:p.Arg333Gly | |
| NM_182919.4:c.1639C>G MANE Select | NP_891549.1:p.Arg547Gly |