Linked Data
ClinVar Variation Id:
100649
ClinVar RCV Id:
RCV000087049
dbSNP Id:
rs587777128
gnomAD v4:
16-78108454-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78108454C>A , CM000678.2:g.78108454C>A | GRCh38 |
| NC_000016.9:g.78142351C>A , CM000678.1:g.78142351C>A | GRCh37 |
| NC_000016.8:g.76699852C>A | NCBI36 |
| NG_011698.1:g.13801C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.139C>A | ENSP00000485925.2:p.Pro47Thr | |
| ENST00000682609.1:n.466C>A | ||
| ENST00000683286.1:n.466C>A | ||
| ENST00000683929.1:c.139C>A | ENSP00000507689.1:p.Pro47Thr | |
| ENST00000684070.1:n.437-1324C>A | ||
| ENST00000684381.1:n.466C>A | ||
| ENST00000684452.1:n.466C>A | ||
| ENST00000684632.1:n.518C>A | ||
| ENST00000566780.6:c.139C>A MANE Select | ENSP00000457230.1:p.Pro47Thr | |
| ENST00000355860.7:c.139C>A | ENSP00000348119.3:p.Pro47Thr | |
| ENST00000402655.6:c.139C>A | ENSP00000384238.2:p.Pro47Thr | |
| ENST00000406884.6:c.139C>A | ENSP00000384495.2:p.Pro47Thr | |
| ENST00000408984.7:c.139C>A | ENSP00000386161.3:p.Pro47Thr | |
| ENST00000539474.6:c.139C>A | ENSP00000445210.2:p.Pro47Thr | |
| ENST00000561846.5:n.183C>A | ||
| ENST00000562214.5:n.262C>A | ||
| ENST00000563358.5:n.246C>A | ||
| ENST00000565562.5:n.184C>A | ||
| ENST00000566662.5:c.108-1324C>A | ENSP00000454331.1:n.108-1324C>A | |
| ENST00000566780.5:c.139C>A | ENSP00000457230.1:p.Pro47Thr | |
| ENST00000569332.5:c.108-1324C>A | ENSP00000454788.1:n.108-1324C>A | |
| ENST00000627394.2:c.108-1324C>A | ENSP00000485925.1:n.108-1324C>A | |
| NM_001291997.1:c.-167-1324C>A | NP_001278926.1:n.-167-1324C>A | |
| NM_016373.3:c.139C>A | NP_057457.1:p.Pro47Thr | |
| NM_130791.3:c.139C>A | NP_570607.1:p.Pro47Thr | |
| NR_120436.1:n.619C>A | ||
| XM_006721195.2:c.139C>A | XP_006721258.1:p.Pro47Thr | |
| XM_011523100.1:c.139C>A | XP_011521402.1:p.Pro47Thr | |
| XM_011523101.1:c.139C>A | XP_011521403.1:p.Pro47Thr | |
| XM_011523102.1:c.139C>A | XP_011521404.1:p.Pro47Thr | |
| XM_011523103.1:c.139C>A | XP_011521405.1:p.Pro47Thr | |
| XM_011523104.1:c.139C>A | XP_011521406.1:p.Pro47Thr | |
| XM_011523105.1:c.139C>A | XP_011521407.1:p.Pro47Thr | |
| XM_011523101.3:c.139C>A | XP_011521403.1:p.Pro47Thr | |
| XM_011523103.3:c.139C>A | XP_011521405.1:p.Pro47Thr | |
| XM_011523104.3:c.139C>A | XP_011521406.1:p.Pro47Thr | |
| XM_011523105.3:c.139C>A | XP_011521407.1:p.Pro47Thr | |
| XM_017023278.2:c.139C>A | XP_016878767.1:p.Pro47Thr | |
| NM_016373.4:c.139C>A MANE Select | NP_057457.1:p.Pro47Thr | |
| NM_001291997.2:c.-167-1324C>A | NP_001278926.1:n.-167-1324C>A | |
| NM_130791.4:c.139C>A | NP_570607.1:p.Pro47Thr | |
| NR_120436.2:n.378C>A | ||
| NM_130791.5:c.139C>A | NP_570607.1:p.Pro47Thr | |
| NR_120436.3:n.378C>A |