Linked Data
ClinVar Variation Id:
216927
ClinVar RCV Id:
RCV000199368
dbSNP Id:
rs863224870
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74726321G>A , CM000678.2:g.74726321G>A | GRCh38 |
| NC_000016.9:g.74760219G>A , CM000678.1:g.74760219G>A | GRCh37 |
| NC_000016.8:g.73317720G>A | NCBI36 |
| NG_017070.1:g.53511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.517C>T MANE Select | ENSP00000219368.3:p.Pro173Ser | |
| ENST00000219368.7:c.517C>T | ENSP00000219368.3:p.Pro173Ser | |
| ENST00000567683.5:c.364-7161C>T | ENSP00000455126.1:n.364-7161C>T | |
| ENST00000569949.1:c.319C>T | ENSP00000464576.1:p.Pro107Ser | |
| NM_024306.4:c.517C>T | NP_077282.3:p.Pro173Ser | |
| XM_011523317.1:c.517C>T | XP_011521619.1:p.Pro173Ser | |
| XM_011523318.1:c.517C>T | XP_011521620.1:p.Pro173Ser | |
| XM_011523319.1:c.277C>T | XP_011521621.1:p.Pro93Ser | |
| XM_011523317.3:c.517C>T | XP_011521619.1:p.Pro173Ser | |
| XM_011523319.2:c.277C>T | XP_011521621.1:p.Pro93Ser | |
| NM_024306.5:c.517C>T MANE Select | NP_077282.3:p.Pro173Ser |