Linked Data
ClinVar Variation Id:
161767
ClinVar RCV Id:
RCV000149303
dbSNP Id:
rs193920765
gnomAD v4:
8-143609533-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143609533G>A , CM000670.2:g.143609533G>A | GRCh38 |
| NC_000008.10:g.144691703G>A , CM000670.1:g.144691703G>A | GRCh37 |
| NC_000008.9:g.144762846G>A | NCBI36 |
| NG_051357.1:g.5082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495276.6:c.16C>T MANE Select | ENSP00000480945.1:p.Pro6Ser | |
| ENST00000220966.10:c.52C>T | ENSP00000220966.6:p.Pro18Ser | |
| ENST00000377579.7:c.-321+143C>T | ENSP00000366802.3:n.-321+143C>T | |
| ENST00000433751.5:c.16C>T | ENSP00000404493.2:p.Pro6Ser | |
| ENST00000447926.6:c.16C>T | ENSP00000401804.2:p.Pro6Ser | |
| ENST00000482616.1:n.25C>T | ||
| ENST00000495276.5:c.16C>T | ENSP00000480945.1:p.Pro6Ser | |
| NM_023078.3:c.52C>T | NP_075566.2:p.Pro18Ser | |
| NM_001329866.2:c.16C>T | NP_001316795.2:p.Pro6Ser | |
| NM_023078.5:c.16C>T | NP_075566.3:p.Pro6Ser | |
| NR_138144.2:n.43C>T | ||
| NM_023078.6:c.16C>T MANE Select | NP_075566.3:p.Pro6Ser | |
| NM_001329866.3:c.16C>T | NP_001316795.2:p.Pro6Ser | |
| NR_138144.3:n.43C>T |