Linked Data
ClinVar Variation Id:
4488
ClinVar RCV Id:
RCV000004745
dbSNP Id:
rs104894029
gnomAD v4:
7-33015741-C-G
PubMed:
PMID:15238149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33015741C>G , CM000669.2:g.33015741C>G | GRCh38 |
| NC_000007.13:g.33055353C>G , CM000669.1:g.33055353C>G | GRCh37 |
| NC_000007.12:g.33021878C>G | NCBI36 |
| NG_015800.1:g.52057G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409467.6:c.685G>C | ENSP00000387166.1:p.Gly229Arg | |
| ENST00000610140.7:c.823G>C MANE Select | ENSP00000476480.2:p.Gly275Arg | |
| ENST00000643244.1:c.721G>C | ENSP00000496364.1:p.Gly241Arg | |
| ENST00000242210.11:c.838G>C | ENSP00000242210.7:p.Gly280Arg | |
| ENST00000381626.6:c.685G>C | ENSP00000371039.2:p.Gly229Arg | |
| ENST00000396152.6:c.721G>C | ENSP00000379456.2:p.Gly241Arg | |
| ENST00000405342.5:c.721G>C | ENSP00000385261.1:p.Gly241Arg | |
| ENST00000409467.5:c.685G>C | ENSP00000387166.1:p.Gly229Arg | |
| ENST00000456458.5:c.*728G>C | ENSP00000389676.2:n.*728G>C | |
| ENST00000473083.1:n.186G>C | ||
| ENST00000610140.5:c.823G>C | ENSP00000476480.1:p.Gly275Arg | |
| ENST00000620705.4:c.838G>C | ENSP00000484415.1:p.Gly280Arg | |
| NM_001002009.2:c.721G>C | NP_001002009.1:p.Gly241Arg | |
| NM_001002010.2:c.838G>C | NP_001002010.1:p.Gly280Arg | |
| NM_001166118.2:c.685G>C | NP_001159590.1:p.Gly229Arg | |
| NM_016489.12:c.721G>C | NP_057573.2:p.Gly241Arg | |
| XM_011515409.1:c.685G>C | XP_011513711.1:p.Gly229Arg | |
| NM_001002010.3:c.823G>C | NP_001002010.2:p.Gly275Arg | |
| NM_001356996.1:c.685G>C | NP_001343925.1:p.Gly229Arg | |
| NM_001002009.3:c.721G>C | NP_001002009.1:p.Gly241Arg | |
| NM_001002010.5:c.823G>C MANE Select | NP_001002010.2:p.Gly275Arg | |
| NM_001166118.3:c.685G>C | NP_001159590.1:p.Gly229Arg | |
| NM_001356996.2:c.685G>C | NP_001343925.1:p.Gly229Arg | |
| NM_001374335.1:c.724G>C | NP_001361264.1:p.Gly242Arg | |
| NM_001374336.1:c.685G>C | NP_001361265.1:p.Gly229Arg | |
| NM_001374337.1:c.685G>C | NP_001361266.1:p.Gly229Arg | |
| NM_001374338.1:c.694-910G>C | NP_001361267.1:n.694-910G>C | |
| NM_001374339.1:c.622G>C | NP_001361268.1:p.Gly208Arg | |
| NM_016489.13:c.721G>C | NP_057573.2:p.Gly241Arg | |
| NM_001356996.3:c.685G>C | NP_001343925.1:p.Gly229Arg | |
| NM_016489.14:c.721G>C | NP_057573.2:p.Gly241Arg |