Linked Data
ClinVar Variation Id:
2688544
ClinVar RCV Id:
RCV003490438
dbSNP Id:
rs26653
ExAC:
5:96139250 C / G
gnomAD v2:
5-96139250-C-G
gnomAD v3:
5-96803547-C-G
gnomAD v4:
5-96803547-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96803547C>G , CM000667.2:g.96803547C>G | GRCh38 |
| NC_000005.9:g.96139250C>G , CM000667.1:g.96139250C>G | GRCh37 |
| NC_000005.8:g.96165006C>G | NCBI36 |
| NG_027839.1:g.15599G>C | |
| NG_027839.2:g.137437G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443439.7:c.380G>C MANE Select | ENSP00000406304.2:p.Arg127Pro | |
| ENST00000296754.7:c.380G>C | ENSP00000296754.3:p.Arg127Pro | |
| ENST00000443439.6:c.380G>C | ENSP00000406304.2:p.Arg127Pro | |
| ENST00000503921.5:c.-205G>C | ENSP00000427025.1:n.-205G>C | |
| ENST00000507154.1:c.380G>C | ENSP00000421697.1:p.Arg127Pro | |
| ENST00000508227.5:c.-185G>C | ENSP00000422631.1:n.-185G>C | |
| NM_001040458.1:c.380G>C | NP_001035548.1:p.Arg127Pro | |
| NM_001198541.1:c.380G>C | NP_001185470.1:p.Arg127Pro | |
| NM_016442.3:c.380G>C | NP_057526.3:p.Arg127Pro | |
| XM_005272015.3:c.380G>C | XP_005272072.1:p.Arg127Pro | |
| XM_005272016.3:c.380G>C | XP_005272073.1:p.Arg127Pro | |
| XM_011543480.1:c.380G>C | XP_011541782.1:p.Arg127Pro | |
| XM_011543481.1:c.380G>C | XP_011541783.1:p.Arg127Pro | |
| XM_011543482.1:c.380G>C | XP_011541784.1:p.Arg127Pro | |
| XM_011543483.1:c.380G>C | XP_011541785.1:p.Arg127Pro | |
| XM_011543484.1:c.380G>C | XP_011541786.1:p.Arg127Pro | |
| XM_011543485.1:c.380G>C | XP_011541787.1:p.Arg127Pro | |
| XM_011543486.1:c.380G>C | XP_011541788.1:p.Arg127Pro | |
| XM_011543487.1:c.380G>C | XP_011541789.1:p.Arg127Pro | |
| NM_001040458.2:c.380G>C | NP_001035548.1:p.Arg127Pro | |
| NM_001198541.2:c.380G>C | NP_001185470.1:p.Arg127Pro | |
| NM_001349244.1:c.380G>C | NP_001336173.1:p.Arg127Pro | |
| NM_016442.4:c.380G>C | NP_057526.3:p.Arg127Pro | |
| XM_005272015.5:c.380G>C | XP_005272072.1:p.Arg127Pro | |
| XM_005272016.4:c.380G>C | XP_005272073.1:p.Arg127Pro | |
| XM_011543480.2:c.380G>C | XP_011541782.1:p.Arg127Pro | |
| XM_011543481.2:c.380G>C | XP_011541783.1:p.Arg127Pro | |
| XM_011543484.2:c.380G>C | XP_011541786.1:p.Arg127Pro | |
| XM_011543485.2:c.380G>C | XP_011541787.1:p.Arg127Pro | |
| XM_011543486.3:c.380G>C | XP_011541788.1:p.Arg127Pro | |
| XM_017009581.1:c.380G>C | XP_016865070.1:p.Arg127Pro | |
| XM_017009583.2:c.-663G>C | XP_016865072.1:n.-663G>C | |
| XM_024446113.1:c.380G>C | XP_024301881.1:p.Arg127Pro | |
| XR_001742119.2:n.673G>C | ||
| NM_001040458.3:c.380G>C MANE Select | NP_001035548.1:p.Arg127Pro | |
| NM_001198541.3:c.380G>C | NP_001185470.1:p.Arg127Pro | |
| NM_001349244.2:c.380G>C | NP_001336173.1:p.Arg127Pro | |
| NM_016442.5:c.380G>C | NP_057526.3:p.Arg127Pro |