Linked Data
ClinVar Variation Id:
311228
ClinVar RCV Id:
RCV000345888
dbSNP Id:
rs3093267
ExAC:
13:113772975 G / A
gnomAD v2:
13-113772975-G-A
gnomAD v3:
13-113118661-G-A
gnomAD v4:
13-113118661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118661G>A , CM000675.2:g.113118661G>A | GRCh38 |
| NC_000013.10:g.113772975G>A , CM000675.1:g.113772975G>A | GRCh37 |
| NC_000013.9:g.112820976G>A | NCBI36 |
| NG_009258.1:g.863G>A , LRG_548:g.863G>A | |
| NG_009262.1:g.17871G>A , LRG_554:g.17871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.988G>A MANE Select | ENSP00000329546.4:p.Ala330Thr | |
| ENST00000346342.7:c.988G>A | ENSP00000329546.3:p.Ala330Thr | |
| ENST00000375581.3:c.1054G>A | ENSP00000364731.3:p.Ala352Thr | |
| ENST00000541084.5:c.802G>A | ENSP00000442051.2:p.Ala268Thr | |
| NM_000131.4:c.1054G>A , LRG_554t1:c.1054G>A | NP_000122.1:p.Ala352Thr | |
| NM_001267554.1:c.802G>A | NP_001254483.1:p.Ala268Thr | |
| NM_019616.3:c.988G>A , LRG_554t2:c.988G>A | NP_062562.1:p.Ala330Thr | |
| NR_051961.1:n.1075G>A | ||
| XM_006719963.2:c.847G>A | XP_006720026.1:p.Ala283Thr | |
| XM_011537474.1:c.1096G>A | XP_011535776.1:p.Ala366Thr | |
| XM_011537475.1:c.910G>A | XP_011535777.1:p.Ala304Thr | |
| XM_011537476.1:c.748G>A | XP_011535778.1:p.Ala250Thr | |
| XM_011537477.1:c.1057G>A | XP_011535779.1:p.Ala353Thr | |
| XM_006719963.3:c.892G>A | XP_006720026.2:p.Ala298Thr | |
| XM_011537474.2:c.1141G>A | XP_011535776.2:p.Ala381Thr | |
| XM_011537475.2:c.955G>A | XP_011535777.2:p.Ala319Thr | |
| XM_011537476.2:c.748G>A | XP_011535778.1:p.Ala250Thr | |
| NM_019616.4:c.988G>A MANE Select | NP_062562.1:p.Ala330Thr | |
| NR_051961.2:n.1072G>A | ||
| NM_001267554.2:c.802G>A | NP_001254483.1:p.Ala268Thr |