Linked Data
ClinVar Variation Id:
319767
dbSNP Id:
rs202060835
ExAC:
16:55536700 G / A
gnomAD v2:
16-55536700-G-A
gnomAD v3:
16-55502788-G-A
gnomAD v4:
16-55502788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55502788G>A , CM000678.2:g.55502788G>A | GRCh38 |
| NC_000016.9:g.55536700G>A , CM000678.1:g.55536700G>A | GRCh37 |
| NC_000016.8:g.54094201G>A | NCBI36 |
| NG_008989.1:g.28620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1779G>A MANE Select | ENSP00000219070.4:p.Glu593= | |
| ENST00000219070.8:c.1779G>A | ENSP00000219070.4:p.Glu593= | |
| ENST00000437642.6:c.1629G>A | ENSP00000394237.2:p.Glu543= | |
| ENST00000543485.5:c.1551G>A | ENSP00000444143.1:p.Glu517= | |
| ENST00000570283.1:c.654G>A | ENSP00000456518.1:p.Glu218= | |
| ENST00000570308.5:c.1551G>A | ENSP00000461421.1:p.Glu517= | |
| NM_001127891.2:c.1629G>A | NP_001121363.1:p.Glu543= | |
| NM_001302508.1:c.1551G>A | NP_001289437.1:p.Glu517= | |
| NM_001302509.1:c.1551G>A | NP_001289438.1:p.Glu517= | |
| NM_001302510.1:c.1551G>A | NP_001289439.1:p.Glu517= | |
| NM_004530.5:c.1779G>A | NP_004521.1:p.Glu593= | |
| NM_004530.6:c.1779G>A MANE Select | NP_004521.1:p.Glu593= | |
| NM_001127891.3:c.1629G>A | NP_001121363.1:p.Glu543= | |
| NM_001302509.2:c.1551G>A | NP_001289438.1:p.Glu517= | |
| NM_001302510.2:c.1551G>A | NP_001289439.1:p.Glu517= |