Linked Data
ClinVar Variation Id:
5875
ClinVar RCV Id:
RCV000006233
dbSNP Id:
rs121908569
gnomAD v4:
2-88583430-C-T
PubMed:
PMID:10932183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88583430C>T , CM000664.2:g.88583430C>T | GRCh38 |
| NC_000002.11:g.88882948C>T , CM000664.1:g.88882948C>T | GRCh37 |
| NC_000002.10:g.88664063C>T | NCBI36 |
| NG_016424.1:g.49147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682276.1:n.1208G>A | ||
| ENST00000682892.1:c.1310G>A | ENSP00000507214.1:p.Arg437Gln | |
| ENST00000682952.1:n.1402G>A | ||
| ENST00000684455.1:c.976G>A | ||
| ENST00000684642.1:c.1160G>A | ENSP00000507355.1:p.Arg387Gln | |
| ENST00000303236.9:c.1763G>A MANE Select | ENSP00000307235.3:p.Arg588Gln | |
| ENST00000652099.1:c.1957G>A | ||
| ENST00000652736.1:n.1639G>A | ||
| ENST00000303236.7:c.1763G>A | ENSP00000307235.3:p.Arg588Gln | |
| ENST00000415570.1:c.1400G>A | ENSP00000412076.1:p.Arg467Gln | |
| ENST00000419748.5:c.1310G>A | ENSP00000408325.1:p.Arg437Gln | |
| NM_001313915.1:c.1310G>A | NP_001300844.1:p.Arg437Gln | |
| NM_004836.5:c.1763G>A | NP_004827.4:p.Arg588Gln | |
| NM_004836.6:c.1763G>A | NP_004827.4:p.Arg588Gln | |
| XM_005264649.3:c.1079G>A | XP_005264706.1:p.Arg360Gln | |
| XR_939749.1:n.1972G>A | ||
| XM_017005376.2:c.1079G>A | XP_016860865.1:p.Arg360Gln | |
| NM_004836.7:c.1763G>A MANE Select | NP_004827.4:p.Arg588Gln | |
| NM_001313915.2:c.1310G>A | NP_001300844.1:p.Arg437Gln |