Linked Data
ClinVar Variation Id:
195375
dbSNP Id:
rs138613460
ExAC:
1:10032168 G / A
gnomAD v2:
1-10032168-G-A
gnomAD v3:
1-9972110-G-A
gnomAD v4:
1-9972110-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9972110G>A , CM000663.2:g.9972110G>A | GRCh38 |
| NC_000001.10:g.10032168G>A , CM000663.1:g.10032168G>A | GRCh37 |
| NC_000001.9:g.9954755G>A | NCBI36 |
| NG_032954.1:g.33683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.37G>A MANE Select | ENSP00000366410.1:p.Ala13Thr | |
| ENST00000377205.5:c.37G>A | ENSP00000366410.1:p.Ala13Thr | |
| ENST00000403197.5:c.37G>A | ENSP00000385131.1:p.Ala13Thr | |
| ENST00000462686.1:c.37G>A | ENSP00000435134.1:p.Ala13Thr | |
| ENST00000492735.1:n.121G>A | ||
| NM_001297778.1:c.37G>A | NP_001284707.1:p.Ala13Thr | |
| NM_001297779.1:c.37G>A | NP_001284708.1:p.Ala13Thr | |
| NM_022787.3:c.37G>A | NP_073624.2:p.Ala13Thr | |
| XM_011541971.1:c.37G>A | XP_011540273.1:p.Ala13Thr | |
| XM_011541971.2:c.37G>A | XP_011540273.1:p.Ala13Thr | |
| XM_017002107.2:c.37G>A | XP_016857596.1:p.Ala13Thr | |
| XM_017002108.2:c.37G>A | XP_016857597.1:p.Ala13Thr | |
| NM_022787.4:c.37G>A MANE Select | NP_073624.2:p.Ala13Thr | |
| NM_001297779.2:c.37G>A | NP_001284708.1:p.Ala13Thr |