Linked Data
ClinVar Variation Id:
486524
ClinVar RCV Id:
RCV000562623
dbSNP Id:
rs1555740077
gnomAD v4:
19-1226478-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226478G>C , CM000681.2:g.1226478G>C | GRCh38 |
| NC_000019.9:g.1226477G>C , CM000681.1:g.1226477G>C | GRCh37 |
| NC_000019.8:g.1177477G>C | NCBI36 |
| NG_007460.2:g.42072G>C , LRG_319:g.42072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2734G>C | ENSP00000490268.2:n.*2734G>C | |
| ENST00000585748.3:c.761G>C | ENSP00000477641.2:p.Ser254Thr | |
| ENST00000585851.2:c.959G>C | ENSP00000467912.2:p.Ser320Thr | |
| ENST00000326873.12:c.1133G>C MANE Select | ENSP00000324856.6:p.Ser378Thr | |
| ENST00000326873.11:c.1133G>C | ENSP00000324856.6:p.Ser378Thr | |
| ENST00000585465.2:n.2866G>C | ||
| ENST00000586243.5:c.1133G>C | ENSP00000467240.2:p.Ser378Thr | |
| ENST00000589152.5:n.1831G>C | ||
| NM_000455.4:c.1133G>C , LRG_319t1:c.1133G>C | NP_000446.1:p.Ser378Thr | |
| XM_005259617.1:c.1128G>C | XP_005259674.1:p.Gln376His | |
| XM_011528209.1:c.906G>C | XP_011526511.1:p.Gln302His | |
| XM_005259617.3:c.1128G>C | XP_005259674.1:p.Gln376His | |
| XM_011528209.2:c.906G>C | XP_011526511.1:p.Gln302His | |
| XR_001753738.2:n.1939G>C | ||
| XR_001753740.2:n.1909G>C | ||
| NM_000455.5:c.1133G>C MANE Select | NP_000446.1:p.Ser378Thr |