Linked Data
ClinVar Variation Id:
3046043
ClinVar RCV Id:
RCV003951701
dbSNP Id:
rs147369833
ExAC:
19:13051130 G / C
gnomAD v2:
19-13051130-G-C
gnomAD v3:
19-12940316-G-C
gnomAD v4:
19-12940316-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12940316G>C , CM000681.2:g.12940316G>C | GRCh38 |
| NC_000019.9:g.13051130G>C , CM000681.1:g.13051130G>C | GRCh37 |
| NC_000019.8:g.12912130G>C | NCBI36 |
| NG_029662.1:g.6717G>C , LRG_828:g.6717G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.566G>C MANE Select | ENSP00000320866.4:p.Ser189Thr | |
| ENST00000586760.2:c.566G>C | ENSP00000465918.2:p.Ser189Thr | |
| ENST00000586967.2:c.566G>C | ENSP00000466037.2:p.Ser189Thr | |
| ENST00000588454.6:c.362G>C | ENSP00000465105.2:p.Ser121Thr | |
| ENST00000680816.1:c.566G>C | ENSP00000504963.1:p.Ser189Thr | |
| ENST00000316448.9:c.566G>C | ENSP00000320866.4:p.Ser189Thr | |
| ENST00000588454.5:c.362G>C | ENSP00000465105.1:p.Ser121Thr | |
| ENST00000590325.1:n.727G>C | ||
| NM_004343.3:c.566G>C , LRG_828t1:c.566G>C | NP_004334.1:p.Ser189Thr | |
| NM_004343.4:c.566G>C MANE Select | NP_004334.1:p.Ser189Thr |