Linked Data
ClinVar Variation Id:
38455
ClinVar RCV Id:
RCV002255122
dbSNP Id:
rs113994151
gnomAD v3:
17-75517064-T-C
gnomAD v4:
17-75517064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75517064T>C , CM000679.2:g.75517064T>C | GRCh38 |
| NC_000017.10:g.73513145T>C , CM000679.1:g.73513145T>C | GRCh37 |
| NC_000017.9:g.71024740T>C | NCBI36 |
| NG_013041.1:g.5537T>C | |
| NG_033152.1:g.3520A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.277T>C MANE Select | ENSP00000327487.6:p.Ser93Pro | |
| ENST00000434205.8:c.-27T>C | ENSP00000406559.4:n.-27T>C | |
| ENST00000545228.3:c.277T>C | ENSP00000438169.3:p.Ser93Pro | |
| ENST00000579449.2:n.76T>C | ||
| ENST00000580013.6:n.286T>C | ||
| ENST00000583818.2:c.277T>C | ENSP00000461928.2:p.Ser93Pro | |
| ENST00000679370.1:n.664T>C | ||
| ENST00000679429.1:c.277T>C | ENSP00000505403.1:p.Ser93Pro | |
| ENST00000679443.1:n.152T>C | ||
| ENST00000679782.1:c.277T>C | ENSP00000505995.1:p.Ser93Pro | |
| ENST00000679919.1:n.152T>C | ||
| ENST00000679928.1:c.277T>C | ENSP00000506071.1:p.Ser93Pro | |
| ENST00000680528.1:n.302T>C | ||
| ENST00000680999.1:c.277T>C | ENSP00000504984.1:p.Ser93Pro | |
| ENST00000681282.1:c.277T>C | ENSP00000506339.1:p.Ser93Pro | |
| ENST00000333213.10:c.277T>C | ENSP00000327487.6:p.Ser93Pro | |
| ENST00000434205.7:c.-27T>C | ENSP00000406559.3:n.-27T>C | |
| ENST00000578415.1:c.149T>C | ||
| ENST00000580013.5:n.302T>C | ||
| ENST00000583173.5:c.112T>C | ENSP00000463619.1:p.Ser38Pro | |
| ENST00000583454.1:n.410T>C | ||
| ENST00000583634.1:n.95T>C | ||
| ENST00000583818.1:c.172T>C | ENSP00000461928.1:p.Ser58Pro | |
| NM_207346.2:c.277T>C | NP_997229.2:p.Ser93Pro | |
| XM_005257229.2:c.277T>C | XP_005257286.1:p.Ser93Pro | |
| XM_006721821.2:c.-27T>C | XP_006721884.1:n.-27T>C | |
| XM_011524616.1:c.277T>C | XP_011522918.1:p.Ser93Pro | |
| XM_011524617.1:c.277T>C | XP_011522919.1:p.Ser93Pro | |
| XM_011524618.1:c.277T>C | XP_011522920.1:p.Ser93Pro | |
| XR_243646.2:n.307T>C | ||
| XM_005257229.4:c.277T>C | XP_005257286.1:p.Ser93Pro | |
| XR_243646.4:n.313T>C | ||
| NM_207346.3:c.277T>C MANE Select | NP_997229.2:p.Ser93Pro |