Linked Data
ClinVar Variation Id:
378059
ClinVar RCV Id:
RCV000439790
dbSNP Id:
rs1057520306
gnomAD v4:
10-47679-G-A
PubMed:
PMID:27273344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47679G>A , CM000672.2:g.47679G>A | GRCh38 |
| NC_000010.10:g.93619G>A , CM000672.1:g.93619G>A | GRCh37 |
| NC_000010.9:g.83619G>A | NCBI36 |
| NG_046777.1:g.33777C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.713C>T MANE Select | ENSP00000456206.2:p.Thr238Met | |
| ENST00000561967.1:c.*376C>T | ENSP00000454878.1:n.*376C>T | |
| ENST00000562809.1:c.*376C>T | ENSP00000456899.1:n.*376C>T | |
| ENST00000564130.2:c.611C>T | ENSP00000457610.1:p.Thr204Met | |
| ENST00000567466.1:c.*557C>T | ENSP00000454914.1:n.*557C>T | |
| ENST00000568584.5:c.713C>T | ENSP00000456206.1:p.Thr238Met | |
| ENST00000568866.5:c.602C>T | ENSP00000457062.1:p.Thr201Met | |
| NM_177987.2:c.713C>T | NP_817124.1:p.Thr238Met | |
| XM_011519458.1:c.497C>T | XP_011517760.1:p.Thr166Met | |
| XM_011519459.1:c.497C>T | XP_011517761.1:p.Thr166Met | |
| XM_011519460.1:c.254C>T | XP_011517762.1:p.Thr85Met | |
| XM_011519459.3:c.497C>T | XP_011517761.1:p.Thr166Met | |
| XM_011519460.2:c.254C>T | XP_011517762.1:p.Thr85Met | |
| XM_017016192.2:c.377C>T | XP_016871681.1:p.Thr126Met | |
| XM_017016193.2:c.377C>T | XP_016871682.1:p.Thr126Met | |
| NM_177987.3:c.713C>T MANE Select | NP_817124.1:p.Thr238Met | |
| NM_001389618.1:c.497C>T | NP_001376547.1:p.Thr166Met | |
| NM_001389619.1:c.497C>T | NP_001376548.1:p.Thr166Met |