Linked Data
ClinVar Variation Id:
659832
dbSNP Id:
rs748082671
ExAC:
6:32810790 G / A
gnomAD v2:
6-32810790-G-A
gnomAD v3:
6-32843013-G-A
gnomAD v4:
6-32843013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843013G>A , CM000668.2:g.32843013G>A | GRCh38 |
| NC_000006.11:g.32810790G>A , CM000668.1:g.32810790G>A | GRCh37 |
| NC_000006.10:g.32918768G>A | NCBI36 |
| NG_009793.3:g.758C>T | |
| NG_028165.1:g.6923C>T | |
| NG_009793.4:g.758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.245C>T | ||
| ENST00000697612.1:n.923C>T | ||
| ENST00000374881.3:c.212C>T | ENSP00000364015.2:p.Thr71Met | |
| ENST00000374882.8:c.224C>T MANE Select | ENSP00000364016.4:p.Thr75Met | |
| ENST00000650411.1:n.1545C>T | ||
| ENST00000650793.1:n.245C>T | ||
| ENST00000374881.2:c.212C>T | ENSP00000364015.2:p.Thr71Met | |
| ENST00000374882.7:c.224C>T | ENSP00000364016.3:p.Thr75Met | |
| ENST00000395339.7:c.224C>T | ENSP00000378748.3:p.Thr75Met | |
| ENST00000484003.1:n.450C>T | ||
| NM_004159.4:c.212C>T | NP_004150.1:p.Thr71Met | |
| NM_148919.3:c.224C>T | NP_683720.2:p.Thr75Met | |
| NM_148919.4:c.224C>T MANE Select | NP_683720.2:p.Thr75Met | |
| NM_004159.5:c.212C>T | NP_004150.1:p.Thr71Met |