Linked Data
ClinVar Variation Id:
95933
dbSNP Id:
rs398124349
gnomAD v2:
16-5132649-C-T
gnomAD v4:
16-5082648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5082648C>T , CM000678.2:g.5082648C>T | GRCh38 |
| NC_000016.9:g.5132649C>T , CM000678.1:g.5132649C>T | GRCh37 |
| NC_000016.8:g.5072650C>T | NCBI36 |
| NG_009202.1:g.15840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3298C>T | ||
| ENST00000682020.1:c.568C>T | ENSP00000508075.1:p.Pro190Ser | |
| ENST00000682206.1:c.*257C>T | ENSP00000508285.1:n.*257C>T | |
| ENST00000682314.1:n.1210C>T | ||
| ENST00000682327.1:c.634C>T | ENSP00000507058.1:p.Pro212Ser | |
| ENST00000682349.1:n.3304C>T | ||
| ENST00000682703.1:n.4130C>T | ||
| ENST00000682797.1:c.*254C>T | ENSP00000507582.1:n.*254C>T | |
| ENST00000682985.1:c.673C>T | ENSP00000507598.1:p.Pro225Ser | |
| ENST00000683433.1:c.421C>T | ENSP00000507463.1:p.Pro141Ser | |
| ENST00000683685.1:n.2036C>T | ||
| ENST00000683710.1:c.*1129C>T | ENSP00000506785.1:n.*1129C>T | |
| ENST00000683739.1:c.829C>T | ENSP00000507002.1:p.Pro277Ser | |
| ENST00000683772.1:n.1206C>T | ||
| ENST00000684008.1:c.1100C>T | ENSP00000507962.1:n.1100C>T | |
| ENST00000684190.1:c.1123C>T | ENSP00000507554.1:p.Pro375Ser | |
| ENST00000684335.1:c.1051C>T | ENSP00000508112.1:p.Pro351Ser | |
| ENST00000262374.10:c.1162C>T MANE Select | ENSP00000262374.5:p.Pro388Ser | |
| ENST00000650085.1:n.1986C>T | ||
| ENST00000262374.9:c.1162C>T | ENSP00000262374.4:p.Pro388Ser | |
| ENST00000544428.1:c.829C>T | ENSP00000440019.1:p.Pro277Ser | |
| ENST00000588623.5:c.829C>T | ENSP00000468118.1:p.Pro277Ser | |
| ENST00000591822.5:c.*1063C>T | ENSP00000467865.1:n.*1063C>T | |
| NM_019109.4:c.1162C>T | NP_061982.3:p.Pro388Ser | |
| XM_011522565.1:c.829C>T | XP_011520867.1:p.Pro277Ser | |
| NM_001330504.1:c.829C>T | NP_001317433.1:p.Pro277Ser | |
| XM_017023457.2:c.1123C>T | XP_016878946.1:p.Pro375Ser | |
| XM_017023458.1:c.829C>T | XP_016878947.1:p.Pro277Ser | |
| XR_932882.3:n.1191C>T | ||
| NM_019109.5:c.1162C>T MANE Select | NP_061982.3:p.Pro388Ser | |
| NM_001330504.2:c.829C>T | NP_001317433.1:p.Pro277Ser |