Linked Data
ClinVar Variation Id:
134109
dbSNP Id:
rs530045760
ExAC:
19:45867145 G / A
gnomAD v2:
19-45867145-G-A
gnomAD v3:
19-45363887-G-A
gnomAD v4:
19-45363887-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363887G>A , CM000681.2:g.45363887G>A | GRCh38 |
| NC_000019.9:g.45867145G>A , CM000681.1:g.45867145G>A | GRCh37 |
| NC_000019.8:g.50558985G>A | NCBI36 |
| NG_007067.2:g.11701C>T , LRG_461:g.11701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.974C>T | ENSP00000375808.4:p.Thr325Met | |
| ENST00000682414.1:c.974C>T | ENSP00000507019.1:p.Thr325Met | |
| ENST00000682508.1:n.1003C>T | ||
| ENST00000684218.1:c.*232C>T | ENSP00000507804.1:n.*232C>T | |
| ENST00000684407.1:c.851C>T | ENSP00000507775.1:p.Thr284Met | |
| ENST00000684458.1:c.974C>T | ENSP00000508260.1:p.Thr325Met | |
| ENST00000391945.10:c.974C>T MANE Select | ENSP00000375809.4:p.Thr325Met | |
| ENST00000587376.6:c.97C>T | ||
| ENST00000646507.1:n.1071C>T | ||
| ENST00000391941.6:c.902C>T | ENSP00000375805.2:p.Thr301Met | |
| ENST00000391944.7:c.740C>T | ENSP00000375808.3:p.Thr247Met | |
| ENST00000391945.8:c.974C>T | ENSP00000375809.3:p.Thr325Met | |
| ENST00000485403.6:c.902C>T | ENSP00000431229.2:p.Thr301Met | |
| ENST00000587376.5:c.97C>T | ||
| NM_000400.3:c.974C>T , LRG_461t1:c.974C>T | NP_000391.1:p.Thr325Met | |
| NM_001130867.1:c.902C>T | NP_001124339.1:p.Thr301Met | |
| XM_011526611.1:c.896C>T | XP_011524913.1:p.Thr299Met | |
| XR_935763.1:n.1021C>T | ||
| XM_011526611.2:c.896C>T | XP_011524913.1:p.Thr299Met | |
| XM_017026467.1:c.851C>T | XP_016881956.1:p.Thr284Met | |
| XR_001753633.2:n.1021C>T | ||
| XR_001753634.2:n.1021C>T | ||
| NM_000400.4:c.974C>T MANE Select | NP_000391.1:p.Thr325Met | |
| NM_001130867.2:c.902C>T | NP_001124339.1:p.Thr301Met |