Linked Data
ClinVar Variation Id:
311225
ClinVar RCV Id:
RCV000346940
dbSNP Id:
rs148965964
ExAC:
13:113772800 G / A
gnomAD v2:
13-113772800-G-A
gnomAD v3:
13-113118486-G-A
gnomAD v4:
13-113118486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118486G>A , CM000675.2:g.113118486G>A | GRCh38 |
| NC_000013.10:g.113772800G>A , CM000675.1:g.113772800G>A | GRCh37 |
| NC_000013.9:g.112820801G>A | NCBI36 |
| NG_009258.1:g.688G>A , LRG_548:g.688G>A | |
| NG_009262.1:g.17696G>A , LRG_554:g.17696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.813G>A MANE Select | ENSP00000329546.4:p.Thr271= | |
| ENST00000346342.7:c.813G>A | ENSP00000329546.3:p.Thr271= | |
| ENST00000375581.3:c.879G>A | ENSP00000364731.3:p.Thr293= | |
| ENST00000541084.5:c.627G>A | ENSP00000442051.2:p.Thr209= | |
| NM_000131.4:c.879G>A , LRG_554t1:c.879G>A | NP_000122.1:p.Thr293= | |
| NM_001267554.1:c.627G>A | NP_001254483.1:p.Thr209= | |
| NM_019616.3:c.813G>A , LRG_554t2:c.813G>A | NP_062562.1:p.Thr271= | |
| NR_051961.1:n.900G>A | ||
| XM_006719963.2:c.672G>A | XP_006720026.1:p.Thr224= | |
| XM_011537474.1:c.921G>A | XP_011535776.1:p.Thr307= | |
| XM_011537475.1:c.735G>A | XP_011535777.1:p.Thr245= | |
| XM_011537476.1:c.573G>A | XP_011535778.1:p.Thr191= | |
| XM_011537477.1:c.882G>A | XP_011535779.1:p.Thr294= | |
| XM_006719963.3:c.717G>A | XP_006720026.2:p.Thr239= | |
| XM_011537474.2:c.966G>A | XP_011535776.2:p.Thr322= | |
| XM_011537475.2:c.780G>A | XP_011535777.2:p.Thr260= | |
| XM_011537476.2:c.573G>A | XP_011535778.1:p.Thr191= | |
| NM_019616.4:c.813G>A MANE Select | NP_062562.1:p.Thr271= | |
| NR_051961.2:n.897G>A | ||
| NM_001267554.2:c.627G>A | NP_001254483.1:p.Thr209= |