Linked Data
dbSNP Id:
rs2067482
ExAC:
11:46406767 G / A
gnomAD v2:
11-46406767-G-A
gnomAD v3:
11-46385217-G-A
gnomAD v4:
11-46385217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46385217G>A , CM000673.2:g.46385217G>A | GRCh38 |
| NC_000011.9:g.46406767G>A , CM000673.1:g.46406767G>A | GRCh37 |
| NC_000011.8:g.46363343G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682254.1:c.1341C>T MANE Select | ENSP00000507561.1:p.Thr447= | |
| ENST00000433765.3:c.1341C>T | ENSP00000409378.2:p.Thr447= | |
| NM_000741.3:c.1341C>T | NP_000732.2:p.Thr447= | |
| NM_000741.4:c.1341C>T | NP_000732.2:p.Thr447= | |
| NM_001366692.1:c.1341C>T | NP_001353621.1:p.Thr447= | |
| NM_000741.5:c.1341C>T MANE Select | NP_000732.2:p.Thr447= | |
| NM_001366692.2:c.1341C>T | NP_001353621.1:p.Thr447= |