Linked Data
ClinVar Variation Id:
347300
ClinVar RCV Id:
RCV000264197
RCV000300585
RCV000304723
RCV000344354
RCV000355389
RCV000359478
RCV000393111
RCV003766004
dbSNP Id:
rs201628949
ExAC:
4:111542507 T / G
gnomAD v2:
4-111542507-T-G
gnomAD v3:
4-110621351-T-G
gnomAD v4:
4-110621351-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110621351T>G , CM000666.2:g.110621351T>G | GRCh38 |
| NC_000004.11:g.111542507T>G , CM000666.1:g.111542507T>G | GRCh37 |
| NC_000004.10:g.111761956T>G | NCBI36 |
| NG_007120.1:g.21002A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.185-2663A>C | ENSP00000484763.2:n.185-2663A>C | |
| ENST00000614423.5:c.122A>C | ENSP00000481951.2:p.Gln41Pro | |
| ENST00000616641.5:n.190A>C | ||
| ENST00000644488.2:n.194A>C | ||
| ENST00000394595.8:c.203A>C | ENSP00000378095.4:p.Gln68Pro | |
| ENST00000644488.1:n.266A>C | ||
| ENST00000644743.1:c.224A>C MANE Select | ENSP00000495061.1:p.Gln75Pro | |
| ENST00000645131.1:n.155A>C | ||
| ENST00000306732.7:c.224A>C | ENSP00000304169.3:p.Gln75Pro | |
| ENST00000354925.6:c.203A>C | ENSP00000347004.2:p.Gln68Pro | |
| ENST00000355080.9:c.65A>C | ENSP00000347192.5:p.Gln22Pro | |
| ENST00000394595.7:c.185-2663A>C | ENSP00000378095.3:n.185-2663A>C | |
| ENST00000394598.6:c.203A>C | ENSP00000378097.2:p.Gln68Pro | |
| ENST00000511837.5:c.203A>C | ENSP00000421454.1:p.Gln68Pro | |
| ENST00000511990.1:c.65A>C | ENSP00000424142.1:p.Gln22Pro | |
| ENST00000557119.2:c.224A>C | ENSP00000475617.1:p.Gln75Pro | |
| ENST00000613094.4:c.203A>C | ENSP00000484763.1:p.Gln68Pro | |
| ENST00000614423.4:c.203A>C | ENSP00000481951.1:p.Gln68Pro | |
| ENST00000616641.4:c.65A>C | ENSP00000484909.1:p.Gln22Pro | |
| NM_000325.5:c.224A>C | NP_000316.2:p.Gln75Pro | |
| NM_001204397.1:c.203A>C | NP_001191326.1:p.Gln68Pro | |
| NM_001204398.1:c.203A>C | NP_001191327.1:p.Gln68Pro | |
| NM_001204399.1:c.65A>C | NP_001191328.1:p.Gln22Pro | |
| NM_153426.2:c.203A>C | NP_700475.1:p.Gln68Pro | |
| NM_153427.2:c.65A>C | NP_700476.1:p.Gln22Pro | |
| XM_006714235.2:c.203A>C | XP_006714298.1:p.Gln68Pro | |
| XM_011532027.1:c.65A>C | XP_011530329.1:p.Gln22Pro | |
| XM_024454090.1:c.-131A>C | XP_024309858.1:n.-131A>C | |
| NM_000325.6:c.224A>C MANE Select | NP_000316.2:p.Gln75Pro | |
| NM_001204397.2:c.203A>C | NP_001191326.1:p.Gln68Pro | |
| NM_153426.3:c.203A>C | NP_700475.1:p.Gln68Pro | |
| NM_153427.3:c.65A>C | NP_700476.1:p.Gln22Pro |