Linked Data
dbSNP Id:
rs1376015491
gnomAD v2:
19-4817006-A-G
gnomAD v4:
19-4816994-A-G
MyVariant Identifiers:
chr19:g.4817006A>G (hg19)
chr19:g.4817006_4817013delinsGGTCGAAG (hg19)
chr19:g.4816994A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816994A>G , CM000681.2:g.4816994A>G | GRCh38 |
| NC_000019.9:g.4817006A>G , CM000681.1:g.4817006A>G | GRCh37 |
| NC_000019.8:g.4768006A>G | NCBI36 |
| NG_031998.1:g.19749T>C , LRG_358:g.19749T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1384T>C MANE Select | ENSP00000248244.4:p.Cys462Arg | |
| ENST00000248244.5:c.1384T>C | ENSP00000248244.4:p.Cys462Arg | |
| ENST00000621756.1:c.967T>C | ENSP00000479467.1:p.Cys323Arg | |
| NM_182919.3:c.1384T>C , LRG_358t1:c.1384T>C | NP_891549.1:p.Cys462Arg | |
| NM_001385678.1:c.1342T>C | NP_001372607.1:p.Cys448Arg | |
| NM_001385679.1:c.1249T>C | NP_001372608.1:p.Cys417Arg | |
| NM_001385680.1:c.742T>C | NP_001372609.1:p.Cys248Arg | |
| NM_182919.4:c.1384T>C MANE Select | NP_891549.1:p.Cys462Arg |