Linked Data
ClinVar Variation Id:
213126
ClinVar RCV Id:
RCV000199014
dbSNP Id:
rs863223498
gnomAD v4:
2-189035136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035136T>C , CM000664.2:g.189035136T>C | GRCh38 |
| NC_000002.11:g.189899862T>C , CM000664.1:g.189899862T>C | GRCh37 |
| NC_000002.10:g.189608107T>C | NCBI36 |
| NG_011799.1:g.149744A>G | |
| NG_011799.2:g.149744A>G | |
| NG_011799.3:g.195166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4133A>G MANE Select | ENSP00000364000.3:p.Gln1378Arg | |
| ENST00000374866.7:c.4133A>G | ENSP00000364000.3:p.Gln1378Arg | |
| ENST00000618828.1:c.2972A>G | ENSP00000482184.1:p.Gln991Arg | |
| NM_000393.3:c.4133A>G | NP_000384.2:p.Gln1378Arg | |
| XM_011510573.1:c.3995A>G | XP_011508875.1:p.Gln1332Arg | |
| NM_000393.4:c.4133A>G | NP_000384.2:p.Gln1378Arg | |
| XM_011510573.3:c.3995A>G | XP_011508875.1:p.Gln1332Arg | |
| NM_000393.5:c.4133A>G MANE Select | NP_000384.2:p.Gln1378Arg |