Linked Data
ClinVar Variation Id:
349745
dbSNP Id:
rs202092409
ExAC:
4:79385640 C / T
gnomAD v2:
4-79385640-C-T
gnomAD v3:
4-78464486-C-T
gnomAD v4:
4-78464486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78464486C>T , CM000666.2:g.78464486C>T | GRCh38 |
| NC_000004.11:g.79385640C>T , CM000666.1:g.79385640C>T | GRCh37 |
| NC_000004.10:g.79604664C>T | NCBI36 |
| NG_015812.1:g.411917C>T | |
| NG_015812.2:g.411917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.6932C>T | ENSP00000508201.1:p.Ser2311Leu | |
| ENST00000512123.4:c.6932C>T MANE Select | ENSP00000422834.2:p.Ser2311Leu | |
| ENST00000512123.3:c.6932C>T | ENSP00000422834.2:p.Ser2311Leu | |
| NM_025074.6:c.6932C>T | NP_079350.5:p.Ser2311Leu | |
| XM_006714314.1:c.6926C>T | XP_006714377.1:p.Ser2309Leu | |
| XM_006714316.1:c.6932C>T | XP_006714379.1:p.Ser2311Leu | |
| XM_011532270.1:c.4631C>T | XP_011530572.1:p.Ser1544Leu | |
| XM_011532271.1:c.1820C>T | XP_011530573.1:p.Ser607Leu | |
| XM_006714316.3:c.6932C>T | XP_006714379.1:p.Ser2311Leu | |
| NM_025074.7:c.6932C>T MANE Select | NP_079350.5:p.Ser2311Leu |