Linked Data
ClinVar Variation Id:
1062954
ClinVar RCV Id:
RCV001372735
dbSNP Id:
rs1256701940
gnomAD v4:
19-4816957-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816957A>C , CM000681.2:g.4816957A>C | GRCh38 |
| NC_000019.9:g.4816969A>C , CM000681.1:g.4816969A>C | GRCh37 |
| NC_000019.8:g.4767969A>C | NCBI36 |
| NG_031998.1:g.19786T>G , LRG_358:g.19786T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1421T>G MANE Select | ENSP00000248244.4:p.Met474Arg | |
| ENST00000248244.5:c.1421T>G | ENSP00000248244.4:p.Met474Arg | |
| ENST00000621756.1:c.1004T>G | ENSP00000479467.1:p.Met335Arg | |
| NM_182919.3:c.1421T>G , LRG_358t1:c.1421T>G | NP_891549.1:p.Met474Arg | |
| NM_001385678.1:c.1379T>G | NP_001372607.1:p.Met460Arg | |
| NM_001385679.1:c.1286T>G | NP_001372608.1:p.Met429Arg | |
| NM_001385680.1:c.779T>G | NP_001372609.1:p.Met260Arg | |
| NM_182919.4:c.1421T>G MANE Select | NP_891549.1:p.Met474Arg |