Linked Data
ClinVar Variation Id:
100655
ClinVar RCV Id:
RCV002281927
dbSNP Id:
rs587777133
ExAC:
16:21734298 C / T
gnomAD v2:
16-21734298-C-T
gnomAD v4:
16-21722977-C-T
PubMed:
PMID:23173898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21722977C>T , CM000678.2:g.21722977C>T | GRCh38 |
| NC_000016.9:g.21734298C>T , CM000678.1:g.21734298C>T | GRCh37 |
| NC_000016.8:g.21641799C>T | NCBI36 |
| NG_012973.1:g.49464C>T | |
| NG_012973.2:g.63845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.1879C>T | ENSP00000373610.3:p.Pro627Ser | |
| ENST00000646100.2:c.1879C>T MANE Select | ENSP00000496564.2:p.Pro627Ser | |
| ENST00000647277.1:c.*693C>T | ENSP00000495594.1:n.*693C>T | |
| ENST00000286149.8:c.1921C>T | ENSP00000286149.4:p.Pro641Ser | |
| ENST00000388956.8:c.1642C>T | ENSP00000373608.4:p.Pro548Ser | |
| ENST00000388957.3:c.907C>T | ENSP00000373609.3:p.Pro303Ser | |
| ENST00000388958.7:c.1879C>T | ENSP00000373610.3:p.Pro627Ser | |
| ENST00000563871.5:n.1294C>T | ||
| NM_001161683.1:c.1642C>T | NP_001155155.1:p.Pro548Ser | |
| NM_144672.3:c.1879C>T | NP_653273.3:p.Pro627Ser | |
| NM_170664.2:c.907C>T | NP_733764.1:p.Pro303Ser | |
| XM_011545747.1:c.1879C>T | XP_011544049.1:p.Pro627Ser | |
| XM_011545748.1:c.748C>T | XP_011544050.1:p.Pro250Ser | |
| NM_144672.4:c.1879C>T MANE Select | NP_653273.3:p.Pro627Ser | |
| XM_011545748.2:c.748C>T | XP_011544050.2:p.Pro250Ser | |
| XM_017022951.1:c.145C>T | XP_016878440.1:p.Pro49Ser | |
| XR_002957775.1:n.974C>T | ||
| NM_001161683.2:c.1642C>T | NP_001155155.1:p.Pro548Ser | |
| NM_170664.3:c.907C>T | NP_733764.1:p.Pro303Ser |