Linked Data
ClinVar Variation Id:
3003211
ClinVar RCV Id:
RCV003867826
gnomAD v4:
19-860687-G-A
MyVariant Identifiers:
chr19:g.860687G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.860687G>A , CM000681.2:g.860687G>A | GRCh38 |
| NC_000019.9:g.860687G>A , CM000681.1:g.860687G>A | GRCh37 |
| NC_000019.8:g.811687G>A | NCBI36 |
| NG_007274.1:g.6023G>A , LRG_46:g.6023G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592860.3:c.147G>A | ENSP00000468253.1:p.Ser49= | |
| ENST00000695942.1:c.9G>A | ENSP00000512275.1:p.Ser3= | |
| ENST00000695943.1:c.9G>A | ENSP00000512276.1:p.Ser3= | |
| ENST00000695944.1:c.9G>A | ENSP00000512277.1:p.Ser3= | |
| ENST00000695945.1:c.126G>A | ENSP00000512278.1:p.Ser42= | |
| ENST00000327726.11:c.126G>A MANE Select | ENSP00000332139.4:p.Ser42= | |
| ENST00000327726.10:c.126G>A | ENSP00000332139.4:p.Ser42= | |
| ENST00000592860.2:c.147G>A | ENSP00000468253.1:p.Ser49= | |
| NM_001928.2:c.126G>A , LRG_46t1:c.126G>A | NP_001919.2:p.Ser42= | |
| NM_001317335.1:c.147G>A | NP_001304264.1:p.Ser49= | |
| NM_001928.3:c.126G>A | NP_001919.2:p.Ser42= | |
| NM_001317335.2:c.147G>A | NP_001304264.1:p.Ser49= | |
| NM_001928.4:c.126G>A MANE Select | NP_001919.2:p.Ser42= |