Linked Data
ClinVar Variation Id:
1496092
ClinVar RCV Id:
RCV002015442
dbSNP Id:
rs773955314
gnomAD v4:
19-7557242-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7557242G>C , CM000681.2:g.7557242G>C | GRCh38 |
| NC_000019.9:g.7622128G>C , CM000681.1:g.7622128G>C | GRCh37 |
| NC_000019.8:g.7528128G>C | NCBI36 |
| NG_013374.1:g.28091G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3355G>C MANE Select | ENSP00000473211.1:p.Gly1119Arg | |
| ENST00000646984.1:c.568+160G>C | ENSP00000496219.1:n.568+160G>C | |
| ENST00000221249.10:c.3241G>C | ENSP00000221249.5:p.Gly1081Arg | |
| ENST00000414982.7:c.3385G>C | ENSP00000407509.2:p.Gly1129Arg | |
| ENST00000450331.7:c.3241G>C | ENSP00000394348.2:p.Gly1081Arg | |
| ENST00000545201.6:c.3160G>C | ENSP00000443323.1:p.Gly1054Arg | |
| ENST00000595352.1:n.286G>C | ||
| ENST00000600737.5:c.3355G>C | ENSP00000473211.1:p.Gly1119Arg | |
| NM_001166111.1:c.3385G>C | NP_001159583.1:p.Gly1129Arg | |
| NM_001166112.1:c.3160G>C | NP_001159584.1:p.Gly1054Arg | |
| NM_001166113.1:c.3241G>C | NP_001159585.1:p.Gly1081Arg | |
| NM_001166114.1:c.3355G>C | NP_001159586.1:p.Gly1119Arg | |
| NM_006702.4:c.3241G>C | NP_006693.3:p.Gly1081Arg | |
| NM_001166111.2:c.3385G>C | NP_001159583.1:p.Gly1129Arg | |
| NM_001166114.2:c.3355G>C MANE Select | NP_001159586.1:p.Gly1119Arg | |
| NM_006702.5:c.3241G>C | NP_006693.3:p.Gly1081Arg | |
| NM_001166112.2:c.3160G>C | NP_001159584.1:p.Gly1054Arg |