Linked Data
ClinVar Variation Id:
769496
ClinVar RCV Id:
RCV002249584
dbSNP Id:
rs7255721
gnomAD v3:
19-8605046-C-G
gnomAD v4:
19-8605046-C-G
MyVariant Identifiers:
chr19:g.8605046C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8605046C>G , CM000681.2:g.8605046C>G | GRCh38 |
| NG_011840.2:g.10657G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000597188.6:c.401G>C MANE Select | ENSP00000471851.1:p.Ser134Thr | |
| ENST00000270328.8:c.401G>C | ENSP00000270328.4:p.Ser134Thr | |
| ENST00000593534.1:n.520G>C | ||
| ENST00000593913.5:c.401G>C | ENSP00000469901.1:p.Ser134Thr | |
| ENST00000596466.2:n.350G>C | ||
| ENST00000596709.5:n.485G>C | ||
| ENST00000596851.5:c.401G>C | ENSP00000469559.1:p.Ser134Thr | |
| ENST00000597188.5:c.401G>C | ENSP00000471851.1:p.Ser134Thr | |
| NM_030957.3:c.401G>C | NP_112219.3:p.Ser134Thr | |
| XM_006722917.2:c.-709G>C | XP_006722980.1:n.-709G>C | |
| XM_011528331.1:c.401G>C | XP_011526633.1:p.Ser134Thr | |
| XM_011528332.1:c.401G>C | XP_011526634.1:p.Ser134Thr | |
| XM_011528333.1:c.401G>C | XP_011526635.1:p.Ser134Thr | |
| XM_011528334.1:c.401G>C | XP_011526636.1:p.Ser134Thr | |
| XR_430156.2:n.677G>C | ||
| XR_936208.1:n.677G>C | ||
| XR_936209.1:n.677G>C | ||
| XM_006722917.3:c.-709G>C | XP_006722980.1:n.-709G>C | |
| XM_017027338.2:c.401G>C | XP_016882827.1:p.Ser134Thr | |
| XR_001753770.1:n.1237G>C | ||
| NM_030957.4:c.401G>C MANE Select | NP_112219.3:p.Ser134Thr |