Linked Data
ClinVar Variation Id:
507521
ClinVar RCV Id:
RCV000607935
dbSNP Id:
rs768525015
ExAC:
6:30882682 C / A
gnomAD v2:
6-30882682-C-A
gnomAD v3:
6-30914905-C-A
gnomAD v4:
6-30914905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30914905C>A , CM000668.2:g.30914905C>A | GRCh38 |
| NC_000006.11:g.30882682C>A , CM000668.1:g.30882682C>A | GRCh37 |
| NC_000006.10:g.30990661C>A | NCBI36 |
| NG_034224.1:g.5698C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.69C>A | ENSP00000441000.2:p.Pro23= | |
| ENST00000672801.1:c.69C>A | ENSP00000500615.1:p.Pro23= | |
| ENST00000676266.1:c.69C>A MANE Select | ENSP00000502585.1:p.Pro23= | |
| ENST00000321897.9:c.69C>A | ENSP00000316092.5:p.Pro23= | |
| ENST00000421263.1:c.69C>A | ENSP00000416390.1:p.Pro23= | |
| ENST00000428017.5:c.69C>A | ENSP00000403749.1:p.Pro23= | |
| ENST00000467717.5:n.80-251C>A | ||
| ENST00000477288.5:n.2657C>A | ||
| ENST00000541562.5:c.159C>A | ENSP00000441000.1:p.Pro53= | |
| ENST00000542001.5:c.69C>A | ENSP00000438200.2:p.Pro23= | |
| ENST00000625423.2:c.-219-251C>A | ENSP00000485818.1:n.-219-251C>A | |
| NM_001167733.2:c.-219-251C>A | NP_001161205.1:n.-219-251C>A | |
| NM_001167734.1:c.159C>A | NP_001161206.1:p.Pro53= | |
| NM_020442.5:c.69C>A | NP_065175.4:p.Pro23= | |
| NM_001167733.3:c.-219-251C>A | NP_001161205.1:n.-219-251C>A | |
| NM_001167734.2:c.159C>A | NP_001161206.1:p.Pro53= | |
| NM_020442.6:c.69C>A MANE Select | NP_065175.4:p.Pro23= |