Linked Data
ClinVar Variation Id:
1024362
ClinVar RCV Id:
RCV001324530
dbSNP Id:
rs1178905173
gnomAD v2:
19-1495373-C-T
gnomAD v4:
19-1495374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495374C>T , CM000681.2:g.1495374C>T | GRCh38 |
| NC_000019.9:g.1495373C>T , CM000681.1:g.1495373C>T | GRCh37 |
| NC_000019.8:g.1446373C>T | NCBI36 |
| NG_055254.1:g.9370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.196C>T MANE Select | ENSP00000233596.2:p.Pro66Ser | |
| ENST00000395479.10:c.196C>T MANE Plus Clinical | ENSP00000378861.5:p.Pro66Ser | |
| ENST00000233596.7:c.196C>T | ENSP00000233596.2:p.Pro66Ser | |
| ENST00000395479.8:c.12C>T | ||
| ENST00000591735.2:n.300C>T | ||
| NM_138393.1:c.196C>T | NP_612402.1:p.Pro66Ser | |
| NM_001329556.2:c.196C>T | NP_001316485.1:p.Pro66Ser | |
| NM_138393.3:c.196C>T | NP_612402.1:p.Pro66Ser | |
| NM_138393.4:c.196C>T MANE Select | NP_612402.1:p.Pro66Ser | |
| NM_001329556.3:c.196C>T MANE Plus Clinical | NP_001316485.1:p.Pro66Ser |