Linked Data
ClinVar Variation Id:
576235
ClinVar RCV Id:
RCV000698683
dbSNP Id:
rs121913572
gnomAD v4:
6-129481422-C-G
COSMIC:
COSM5982518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481422C>G , CM000668.2:g.129481422C>G | GRCh38 |
| NC_000006.11:g.129802567C>G , CM000668.1:g.129802567C>G | GRCh37 |
| NC_000006.10:g.129844260C>G | NCBI36 |
| NG_008678.1:g.603282C>G , LRG_409:g.603282C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7720C>G | ENSP00000481744.2:p.Arg2574Gly | |
| ENST00000618192.5:c.7996C>G | ENSP00000480802.2:p.Arg2666Gly | |
| ENST00000421865.3:c.7732C>G MANE Select | ENSP00000400365.2:p.Arg2578Gly | |
| ENST00000421865.2:c.7732C>G | ENSP00000400365.2:p.Arg2578Gly | |
| ENST00000617695.4:c.7720C>G | ENSP00000481744.1:p.Arg2574Gly | |
| ENST00000618192.4:c.7729C>G | ENSP00000480802.1:p.Arg2577Gly | |
| NM_000426.3:c.7732C>G , LRG_409t1:c.7732C>G | NP_000417.2:p.Arg2578Gly | |
| NM_001079823.1:c.7720C>G | NP_001073291.1:p.Arg2574Gly | |
| XM_005266981.2:c.7996C>G | XP_005267038.1:p.Arg2666Gly | |
| XM_005266982.2:c.7984C>G | XP_005267039.1:p.Arg2662Gly | |
| XM_011535820.1:c.7990C>G | XP_011534122.1:p.Arg2664Gly | |
| XM_005266981.3:c.7996C>G | XP_005267038.1:p.Arg2666Gly | |
| XM_005266982.3:c.7984C>G | XP_005267039.1:p.Arg2662Gly | |
| XM_011535820.2:c.7990C>G | XP_011534122.1:p.Arg2664Gly | |
| XM_017010851.2:c.8002C>G | XP_016866340.1:p.Arg2668Gly | |
| XM_017010852.1:c.6127C>G | XP_016866341.1:p.Arg2043Gly | |
| NM_000426.4:c.7732C>G MANE Select | NP_000417.3:p.Arg2578Gly | |
| NM_001079823.2:c.7720C>G | NP_001073291.2:p.Arg2574Gly |