Linked Data
ClinVar Variation Id:
286241
dbSNP Id:
rs567564095
ExAC:
19:13008578 G / A
gnomAD v2:
19-13008578-G-A
gnomAD v3:
19-12897764-G-A
gnomAD v4:
19-12897764-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897764G>A , CM000681.2:g.12897764G>A | GRCh38 |
| NC_000019.9:g.13008578G>A , CM000681.1:g.13008578G>A | GRCh37 |
| NC_000019.8:g.12869578G>A | NCBI36 |
| NG_009292.1:g.11605G>A | |
| NG_033049.1:g.26509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1144G>A MANE Select | ENSP00000222214.4:p.Ala382Thr | |
| ENST00000222214.9:c.1144G>A | ENSP00000222214.4:p.Ala382Thr | |
| ENST00000585420.5:n.1474G>A | ||
| ENST00000590472.5:c.188G>A | ||
| ENST00000590530.5:c.*584G>A | ENSP00000468452.1:n.*584G>A | |
| ENST00000591043.1:n.1454G>A | ||
| ENST00000591050.1:c.111G>A | ||
| ENST00000591470.5:c.1144G>A | ENSP00000466845.1:p.Ala382Thr | |
| NM_000159.3:c.1144G>A | NP_000150.1:p.Ala382Thr | |
| NM_013976.3:c.1144G>A | NP_039663.1:p.Ala382Thr | |
| NR_102316.1:n.1307G>A | ||
| NR_102317.1:n.1525G>A | ||
| XM_006722721.2:c.1144G>A | XP_006722784.1:p.Ala382Thr | |
| XM_011527899.1:c.1144G>A | XP_011526201.1:p.Ala382Thr | |
| XM_011527900.1:c.1144G>A | XP_011526202.1:p.Ala382Thr | |
| XM_011527899.2:c.1144G>A | XP_011526201.1:p.Ala382Thr | |
| XM_011527900.2:c.1144G>A | XP_011526202.1:p.Ala382Thr | |
| XM_017026580.1:c.1144G>A | XP_016882069.1:p.Ala382Thr | |
| NM_000159.4:c.1144G>A MANE Select | NP_000150.1:p.Ala382Thr | |
| NM_013976.4:c.1144G>A | NP_039663.1:p.Ala382Thr | |
| NM_013976.5:c.1144G>A | NP_039663.1:p.Ala382Thr |