Linked Data
ClinVar Variation Id:
618485
ClinVar RCV Id:
RCV000756902
dbSNP Id:
rs1352275281
gnomAD v2:
3-10191499-G-C
gnomAD v4:
3-10149815-G-C
CIViC:
CA351756154
PCER:
P-CER:CA351756154/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149815G>C , CM000665.2:g.10149815G>C | GRCh38 |
| NC_000003.11:g.10191499G>C , CM000665.1:g.10191499G>C | GRCh37 |
| NC_000003.10:g.10166499G>C | NCBI36 |
| NG_008212.3:g.13181G>C , LRG_322:g.13181G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*169G>C | ENSP00000512434.1:n.*169G>C | |
| ENST00000696143.1:c.628G>C | ENSP00000512435.1:n.628G>C | |
| ENST00000696153.1:c.603G>C | ENSP00000512444.1:p.Gln201His | |
| ENST00000256474.3:c.492G>C MANE Select | ENSP00000256474.3:p.Gln164His | |
| ENST00000256474.2:c.492G>C | ENSP00000256474.2:p.Gln164His | |
| ENST00000345392.2:c.369G>C | ENSP00000344757.2:p.Gln123His | |
| ENST00000477538.1:n.628G>C | ||
| NM_000551.3:c.492G>C , LRG_322t1:c.492G>C | NP_000542.1:p.Gln164His | |
| NM_198156.2:c.369G>C | NP_937799.1:p.Gln123His | |
| NM_001354723.1:c.*46G>C | NP_001341652.1:n.*46G>C | |
| NM_000551.4:c.492G>C MANE Select | NP_000542.1:p.Gln164His | |
| NM_001354723.2:c.*46G>C | NP_001341652.1:n.*46G>C | |
| NM_198156.3:c.369G>C | NP_937799.1:p.Gln123His |