Linked Data
ClinVar Variation Id:
161806
ClinVar RCV Id:
RCV000149342
dbSNP Id:
rs193920863
gnomAD v2:
10-124036369-C-T
gnomAD v4:
10-122276854-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122276854C>T , CM000672.2:g.122276854C>T | GRCh38 |
| NC_000010.10:g.124036369C>T , CM000672.1:g.124036369C>T | GRCh37 |
| NC_000010.9:g.124026359C>T | NCBI36 |
| NG_051638.1:g.11110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260723.6:c.82C>T MANE Select | ENSP00000260723.4:p.Pro28Ser | |
| ENST00000260723.4:c.82C>T | ENSP00000260723.4:p.Pro28Ser | |
| NM_144587.2:c.82C>T | NP_653188.2:p.Pro28Ser | |
| XM_011539238.1:c.85C>T | XP_011537540.1:p.Pro29Ser | |
| XM_011539239.1:c.85C>T | XP_011537541.1:p.Pro29Ser | |
| XM_011539240.1:c.85C>T | XP_011537542.1:p.Pro29Ser | |
| XM_011539241.1:c.85C>T | XP_011537543.1:p.Pro29Ser | |
| XM_011539242.1:c.85C>T | XP_011537544.1:p.Pro29Ser | |
| XM_011539243.1:c.85C>T | XP_011537545.1:p.Pro29Ser | |
| NM_001318189.1:c.85C>T | NP_001305118.1:p.Pro29Ser | |
| NM_144587.3:c.82C>T | NP_653188.2:p.Pro28Ser | |
| XM_011539239.2:c.85C>T | XP_011537541.1:p.Pro29Ser | |
| XM_011539240.2:c.85C>T | XP_011537542.1:p.Pro29Ser | |
| XM_011539241.2:c.85C>T | XP_011537543.1:p.Pro29Ser | |
| XM_011539242.2:c.85C>T | XP_011537544.1:p.Pro29Ser | |
| XM_017015636.1:c.85C>T | XP_016871125.1:p.Pro29Ser | |
| XM_017015637.1:c.-120+1755C>T | XP_016871126.1:n.-120+1755C>T | |
| NM_001318189.2:c.85C>T | NP_001305118.1:p.Pro29Ser | |
| NM_144587.5:c.82C>T MANE Select | NP_653188.2:p.Pro28Ser | |
| NM_001318189.3:c.85C>T | NP_001305118.1:p.Pro29Ser |