Linked Data
ClinVar Variation Id:
133983
dbSNP Id:
rs199643287
ExAC:
2:25523054 G / A
gnomAD v2:
2-25523054-G-A
gnomAD v3:
2-25300185-G-A
gnomAD v4:
2-25300185-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25300185G>A , CM000664.2:g.25300185G>A | GRCh38 |
| NC_000002.11:g.25523054G>A , CM000664.1:g.25523054G>A | GRCh37 |
| NC_000002.10:g.25376558G>A | NCBI36 |
| NG_029465.2:g.47406C>T , LRG_459:g.47406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321117.10:c.131C>T MANE Select | ENSP00000324375.5:p.Thr44Met | |
| ENST00000264709.7:c.131C>T | ENSP00000264709.3:p.Thr44Met | |
| ENST00000321117.9:c.131C>T | ENSP00000324375.5:p.Thr44Met | |
| ENST00000380756.7:c.131C>T | ENSP00000370132.3:p.Thr44Met | |
| ENST00000406659.3:c.131C>T | ENSP00000384852.3:p.Thr44Met | |
| NM_022552.4:c.131C>T , LRG_459t1:c.131C>T | NP_072046.2:p.Thr44Met | |
| NM_175629.2:c.131C>T , LRG_459t4:c.131C>T | NP_783328.1:p.Thr44Met | |
| NM_175630.1:c.131C>T , LRG_459t3:c.131C>T | NP_783329.1:p.Thr44Met | |
| XM_005264175.3:c.131C>T | XP_005264232.1:p.Thr44Met | |
| XM_006711957.2:c.131C>T | XP_006712020.1:p.Thr44Met | |
| XM_011532663.1:c.-138C>T | XP_011530965.1:n.-138C>T | |
| XM_011532664.1:c.131C>T | XP_011530966.1:p.Thr44Met | |
| XM_011532668.1:c.131C>T | XP_011530970.1:p.Thr44Met | |
| NM_001320892.1:c.131C>T | NP_001307821.1:p.Thr44Met | |
| NR_135490.1:n.469C>T | ||
| XM_005264175.5:c.131C>T | XP_005264232.1:p.Thr44Met | |
| XM_011532663.2:c.-138C>T | XP_011530965.1:n.-138C>T | |
| XM_011532664.2:c.131C>T | XP_011530966.1:p.Thr44Met | |
| XM_017003526.1:c.131C>T | XP_016859015.1:p.Thr44Met | |
| XR_001738657.1:n.408C>T | ||
| NM_001320892.2:c.131C>T | NP_001307821.1:p.Thr44Met | |
| NR_135490.2:n.362C>T | ||
| NM_022552.5:c.131C>T MANE Select | NP_072046.2:p.Thr44Met |