Linked Data
ClinVar Variation Id:
14296
ClinVar RCV Id:
RCV000015366
RCV000763556
RCV000790757
RCV001068136
RCV001794447
RCV002288491
RCV002513061
RCV004532360
dbSNP Id:
rs121913572
ExAC:
6:129802567 C / T
gnomAD v2:
6-129802567-C-T
gnomAD v3:
6-129481422-C-T
gnomAD v4:
6-129481422-C-T
COSMIC:
COSM1073152
PubMed:
PMID:12601554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481422C>T , CM000668.2:g.129481422C>T | GRCh38 |
| NC_000006.11:g.129802567C>T , CM000668.1:g.129802567C>T | GRCh37 |
| NC_000006.10:g.129844260C>T | NCBI36 |
| NG_008678.1:g.603282C>T , LRG_409:g.603282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7720C>T | ENSP00000481744.2:p.Arg2574Ter | |
| ENST00000618192.5:c.7996C>T | ENSP00000480802.2:p.Arg2666Ter | |
| ENST00000421865.3:c.7732C>T MANE Select | ENSP00000400365.2:p.Arg2578Ter | |
| ENST00000421865.2:c.7732C>T | ENSP00000400365.2:p.Arg2578Ter | |
| ENST00000617695.4:c.7720C>T | ENSP00000481744.1:p.Arg2574Ter | |
| ENST00000618192.4:c.7729C>T | ENSP00000480802.1:p.Arg2577Ter | |
| NM_000426.3:c.7732C>T , LRG_409t1:c.7732C>T | NP_000417.2:p.Arg2578Ter | |
| NM_001079823.1:c.7720C>T | NP_001073291.1:p.Arg2574Ter | |
| XM_005266981.2:c.7996C>T | XP_005267038.1:p.Arg2666Ter | |
| XM_005266982.2:c.7984C>T | XP_005267039.1:p.Arg2662Ter | |
| XM_011535820.1:c.7990C>T | XP_011534122.1:p.Arg2664Ter | |
| XM_005266981.3:c.7996C>T | XP_005267038.1:p.Arg2666Ter | |
| XM_005266982.3:c.7984C>T | XP_005267039.1:p.Arg2662Ter | |
| XM_011535820.2:c.7990C>T | XP_011534122.1:p.Arg2664Ter | |
| XM_017010851.2:c.8002C>T | XP_016866340.1:p.Arg2668Ter | |
| XM_017010852.1:c.6127C>T | XP_016866341.1:p.Arg2043Ter | |
| NM_000426.4:c.7732C>T MANE Select | NP_000417.3:p.Arg2578Ter | |
| NM_001079823.2:c.7720C>T | NP_001073291.2:p.Arg2574Ter |