Linked Data
ClinVar Variation Id:
374352
dbSNP Id:
rs755377592
ExAC:
13:113773206 G / A
gnomAD v2:
13-113773206-G-A
gnomAD v3:
13-113118892-G-A
gnomAD v4:
13-113118892-G-A
PubMed:
PMID:18976247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118892G>A , CM000675.2:g.113118892G>A | GRCh38 |
| NC_000013.10:g.113773206G>A , CM000675.1:g.113773206G>A | GRCh37 |
| NC_000013.9:g.112821207G>A | NCBI36 |
| NG_009258.1:g.1094G>A , LRG_548:g.1094G>A | |
| NG_009262.1:g.18102G>A , LRG_554:g.18102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1219G>A MANE Select | ENSP00000329546.4:p.Ala407Thr | |
| ENST00000346342.7:c.1219G>A | ENSP00000329546.3:p.Ala407Thr | |
| ENST00000375581.3:c.1285G>A | ENSP00000364731.3:p.Ala429Thr | |
| ENST00000541084.5:c.1033G>A | ENSP00000442051.2:p.Ala345Thr | |
| NM_000131.4:c.1285G>A , LRG_554t1:c.1285G>A | NP_000122.1:p.Ala429Thr | |
| NM_001267554.1:c.1033G>A | NP_001254483.1:p.Ala345Thr | |
| NM_019616.3:c.1219G>A , LRG_554t2:c.1219G>A | NP_062562.1:p.Ala407Thr | |
| NR_051961.1:n.1306G>A | ||
| XM_006719963.2:c.1078G>A | XP_006720026.1:p.Ala360Thr | |
| XM_011537474.1:c.1327G>A | XP_011535776.1:p.Ala443Thr | |
| XM_011537475.1:c.1141G>A | XP_011535777.1:p.Ala381Thr | |
| XM_011537476.1:c.979G>A | XP_011535778.1:p.Ala327Thr | |
| XM_011537477.1:c.1288G>A | XP_011535779.1:p.Ala430Thr | |
| XM_006719963.3:c.1123G>A | XP_006720026.2:p.Ala375Thr | |
| XM_011537474.2:c.1372G>A | XP_011535776.2:p.Ala458Thr | |
| XM_011537475.2:c.1186G>A | XP_011535777.2:p.Ala396Thr | |
| XM_011537476.2:c.979G>A | XP_011535778.1:p.Ala327Thr | |
| NM_019616.4:c.1219G>A MANE Select | NP_062562.1:p.Ala407Thr | |
| NR_051961.2:n.1303G>A | ||
| NM_001267554.2:c.1033G>A | NP_001254483.1:p.Ala345Thr |