Linked Data
ClinVar Variation Id:
627403
dbSNP Id:
rs121964931
ExAC:
13:113772832 C / T
gnomAD v2:
13-113772832-C-T
gnomAD v3:
13-113118518-C-T
gnomAD v4:
13-113118518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118518C>T , CM000675.2:g.113118518C>T | GRCh38 |
| NC_000013.10:g.113772832C>T , CM000675.1:g.113772832C>T | GRCh37 |
| NC_000013.9:g.112820833C>T | NCBI36 |
| NG_009258.1:g.720C>T , LRG_548:g.720C>T | |
| NG_009262.1:g.17728C>T , LRG_554:g.17728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.845C>T MANE Select | ENSP00000329546.4:p.Ala282Val | |
| ENST00000346342.7:c.845C>T | ENSP00000329546.3:p.Ala282Val | |
| ENST00000375581.3:c.911C>T | ENSP00000364731.3:p.Ala304Val | |
| ENST00000541084.5:c.659C>T | ENSP00000442051.2:p.Ala220Val | |
| NM_000131.4:c.911C>T , LRG_554t1:c.911C>T | NP_000122.1:p.Ala304Val | |
| NM_001267554.1:c.659C>T | NP_001254483.1:p.Ala220Val | |
| NM_019616.3:c.845C>T , LRG_554t2:c.845C>T | NP_062562.1:p.Ala282Val | |
| NR_051961.1:n.932C>T | ||
| XM_006719963.2:c.704C>T | XP_006720026.1:p.Ala235Val | |
| XM_011537474.1:c.953C>T | XP_011535776.1:p.Ala318Val | |
| XM_011537475.1:c.767C>T | XP_011535777.1:p.Ala256Val | |
| XM_011537476.1:c.605C>T | XP_011535778.1:p.Ala202Val | |
| XM_011537477.1:c.914C>T | XP_011535779.1:p.Ala305Val | |
| XM_006719963.3:c.749C>T | XP_006720026.2:p.Ala250Val | |
| XM_011537474.2:c.998C>T | XP_011535776.2:p.Ala333Val | |
| XM_011537475.2:c.812C>T | XP_011535777.2:p.Ala271Val | |
| XM_011537476.2:c.605C>T | XP_011535778.1:p.Ala202Val | |
| NM_019616.4:c.845C>T MANE Select | NP_062562.1:p.Ala282Val | |
| NR_051961.2:n.929C>T | ||
| NM_001267554.2:c.659C>T | NP_001254483.1:p.Ala220Val |