Linked Data
ClinVar Variation Id:
319172
dbSNP Id:
rs200013924
ExAC:
16:3646167 C / A
gnomAD v2:
16-3646167-C-A
gnomAD v3:
16-3596166-C-A
gnomAD v4:
16-3596166-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3596166C>A , CM000678.2:g.3596166C>A | GRCh38 |
| NC_000016.9:g.3646167C>A , CM000678.1:g.3646167C>A | GRCh37 |
| NC_000016.8:g.3586168C>A | NCBI36 |
| NG_028123.1:g.20419G>T , LRG_503:g.20419G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.1911G>T MANE Select | ENSP00000294008.3:p.Ser637= | |
| ENST00000294008.3:c.1911G>T | ENSP00000294008.3:p.Ser637= | |
| ENST00000466154.5:n.3132G>T | ||
| NM_032444.2:c.1911G>T , LRG_503t1:c.1911G>T | NP_115820.2:p.Ser637= | |
| XM_011522715.1:c.1911G>T | XP_011521017.1:p.Ser637= | |
| NM_032444.3:c.1911G>T | NP_115820.2:p.Ser637= | |
| XM_011522715.3:c.1911G>T | XP_011521017.1:p.Ser637= | |
| XM_017023775.2:c.1089G>T | XP_016879264.1:p.Ser363= | |
| XM_024450471.1:c.1911G>T | XP_024306239.1:p.Ser637= | |
| NM_032444.4:c.1911G>T MANE Select | NP_115820.2:p.Ser637= |