Linked Data
ClinVar Variation Id:
133961
dbSNP Id:
rs143049891
ExAC:
11:47259728 G / A
gnomAD v2:
11-47259728-G-A
gnomAD v3:
11-47238177-G-A
gnomAD v4:
11-47238177-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47238177G>A , CM000673.2:g.47238177G>A | GRCh38 |
| NC_000011.9:g.47259728G>A , CM000673.1:g.47259728G>A | GRCh37 |
| NC_000011.8:g.47216304G>A | NCBI36 |
| NG_009365.1:g.28236G>A , LRG_467:g.28236G>A | |
| NG_023296.1:g.15730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.1228G>A MANE Select | ENSP00000256996.4:p.Ala410Thr | |
| ENST00000256996.8:c.1228G>A | ENSP00000256996.3:p.Ala410Thr | |
| ENST00000378600.7:c.661G>A | ENSP00000367863.3:p.Ala221Thr | |
| ENST00000378601.7:c.*315G>A | ENSP00000367864.3:n.*315G>A | |
| ENST00000378603.7:c.1036G>A | ENSP00000367866.3:p.Ala346Thr | |
| ENST00000612309.4:n.2677G>A | ||
| ENST00000614884.1:n.236G>A | ||
| ENST00000616278.4:c.904G>A | ENSP00000478411.1:n.904G>A | |
| ENST00000617022.4:n.1758G>A | ||
| ENST00000617847.4:c.1251G>A | ||
| NM_000107.2:c.1228G>A , LRG_467t1:c.1228G>A | NP_000098.1:p.Ala410Thr | |
| NM_001300734.1:c.661G>A | NP_001287663.1:p.Ala221Thr | |
| XR_242780.3:n.1218G>A | ||
| XR_242780.4:n.1218G>A | ||
| NM_000107.3:c.1228G>A MANE Select | NP_000098.1:p.Ala410Thr | |
| NM_001300734.2:c.661G>A | NP_001287663.1:p.Ala221Thr | |
| NM_001399874.1:c.1228G>A | NP_001386803.1:p.Ala410Thr | |
| NM_001399875.1:c.1228G>A | NP_001386804.1:p.Ala410Thr | |
| NM_001399876.1:c.661G>A | NP_001386805.1:p.Ala221Thr | |
| NM_001399878.1:c.1036G>A | NP_001386807.1:p.Ala346Thr | |
| NR_174610.1:n.1479G>A | ||
| NR_174611.1:n.1457G>A |