Linked Data
ClinVar Variation Id:
6662
dbSNP Id:
rs121434431
ExAC:
4:187004500 C / T
gnomAD v2:
4-187004500-C-T
gnomAD v3:
4-186083346-C-T
gnomAD v4:
4-186083346-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186083346C>T , CM000666.2:g.186083346C>T | GRCh38 |
| NC_000004.11:g.187004500C>T , CM000666.1:g.187004500C>T | GRCh37 |
| NC_000004.10:g.187241494C>T | NCBI36 |
| NG_007278.1:g.19192C>T , LRG_117:g.19192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508051.2:c.829C>T | ENSP00000513677.1:p.Pro277Ser | |
| ENST00000698351.1:c.864+796C>T | ENSP00000513674.1:n.864+796C>T | |
| ENST00000698352.1:c.*1212C>T | ENSP00000513675.1:n.*1212C>T | |
| ENST00000698353.1:n.1535C>T | ||
| ENST00000698354.1:c.829C>T | ENSP00000513676.1:p.Pro277Ser | |
| ENST00000296795.8:c.1660C>T MANE Select | ENSP00000296795.3:p.Pro554Ser | |
| ENST00000296795.7:c.1660C>T | ENSP00000296795.2:p.Pro554Ser | |
| ENST00000504367.1:c.829C>T | ENSP00000423684.1:p.Pro277Ser | |
| ENST00000512264.1:n.1736C>T | ||
| NM_003265.2:c.1660C>T , LRG_117t1:c.1660C>T | NP_003256.1:p.Pro554Ser | |
| NM_003265.3:c.1660C>T MANE Select | NP_003256.1:p.Pro554Ser |