Linked Data
ClinVar Variation Id:
310330
dbSNP Id:
rs764263034
ExAC:
12:69743907 G / A
gnomAD v2:
12-69743907-G-A
gnomAD v3:
12-69350127-G-A
gnomAD v4:
12-69350127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69350127G>A , CM000674.2:g.69350127G>A | GRCh38 |
| NC_000012.11:g.69743907G>A , CM000674.1:g.69743907G>A | GRCh37 |
| NC_000012.10:g.68030174G>A | NCBI36 |
| NG_008195.1:g.6774G>A , LRG_768:g.6774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.156G>A MANE Select | ENSP00000261267.2:p.Trp52Ter | |
| ENST00000261267.6:c.156G>A | ENSP00000261267.2:p.Trp52Ter | |
| ENST00000548839.1:c.156G>A | ENSP00000449969.1:p.Trp52Ter | |
| ENST00000549690.1:c.156G>A | ENSP00000449898.1:p.Trp52Ter | |
| NM_000239.2:c.156G>A , LRG_768t1:c.156G>A | NP_000230.1:p.Trp52Ter | |
| NM_000239.3:c.156G>A MANE Select | NP_000230.1:p.Trp52Ter |