Linked Data
ClinVar Variation Id:
31162
dbSNP Id:
rs267608688
gnomAD v2:
12-106827517-C-T
gnomAD v3:
12-106433739-C-T
gnomAD v4:
12-106433739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106433739C>T , CM000674.2:g.106433739C>T | GRCh38 |
| NC_000012.11:g.106827517C>T , CM000674.1:g.106827517C>T | GRCh37 |
| NC_000012.10:g.105351647C>T | NCBI36 |
| NG_031837.1:g.81082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.1648C>T MANE Select | ENSP00000228347.4:p.Arg550Ter | |
| ENST00000228347.8:c.1648C>T | ENSP00000228347.4:p.Arg550Ter | |
| ENST00000539066.5:c.1474C>T | ENSP00000445721.1:p.Arg492Ter | |
| NM_001160708.1:c.1474C>T | NP_001154180.1:p.Arg492Ter | |
| NM_018082.5:c.1648C>T | NP_060552.4:p.Arg550Ter | |
| XM_017019621.2:c.1648C>T | XP_016875110.1:p.Arg550Ter | |
| NM_018082.6:c.1648C>T MANE Select | NP_060552.4:p.Arg550Ter | |
| NM_001160708.2:c.1474C>T | NP_001154180.1:p.Arg492Ter |