Linked Data
ClinVar Variation Id:
129856
dbSNP Id:
rs3087481
ExAC:
1:52851608 G / A
gnomAD v2:
1-52851608-G-A
gnomAD v3:
1-52385936-G-A
gnomAD v4:
1-52385936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52385936G>A , CM000663.2:g.52385936G>A | GRCh38 |
| NC_000001.10:g.52851608G>A , CM000663.1:g.52851608G>A | GRCh37 |
| NC_000001.9:g.52624196G>A | NCBI36 |
| NG_028251.1:g.23536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.1397C>T MANE Select | ENSP00000360623.3:p.Thr466Met | |
| ENST00000371566.1:c.1397C>T | ENSP00000360621.1:p.Thr466Met | |
| ENST00000371568.7:c.1397C>T | ENSP00000360623.3:p.Thr466Met | |
| NM_001190818.1:c.1397C>T | NP_001177747.1:p.Thr466Met | |
| NM_001190819.1:c.1382C>T | NP_001177748.1:p.Thr461Met | |
| NM_004153.3:c.1397C>T | NP_004144.2:p.Thr466Met | |
| XM_011541527.1:c.317C>T | XP_011539829.1:p.Thr106Met | |
| XM_011541527.3:c.317C>T | XP_011539829.1:p.Thr106Met | |
| XM_017001388.2:c.1397C>T | XP_016856877.1:p.Thr466Met | |
| XM_017001389.2:c.659C>T | XP_016856878.1:p.Thr220Met | |
| NM_004153.4:c.1397C>T MANE Select | NP_004144.2:p.Thr466Met | |
| NM_001190818.2:c.1397C>T | NP_001177747.1:p.Thr466Met | |
| NM_001190819.2:c.1382C>T | NP_001177748.1:p.Thr461Met |