Linked Data
ClinVar Variation Id:
12076
dbSNP Id:
rs36209567
ExAC:
13:113772982 C / T
gnomAD v2:
13-113772982-C-T
gnomAD v3:
13-113118668-C-T
gnomAD v4:
13-113118668-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118668C>T , CM000675.2:g.113118668C>T | GRCh38 |
| NC_000013.10:g.113772982C>T , CM000675.1:g.113772982C>T | GRCh37 |
| NC_000013.9:g.112820983C>T | NCBI36 |
| NG_009258.1:g.870C>T , LRG_548:g.870C>T | |
| NG_009262.1:g.17878C>T , LRG_554:g.17878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.995C>T MANE Select | ENSP00000329546.4:p.Ala332Val | |
| ENST00000346342.7:c.995C>T | ENSP00000329546.3:p.Ala332Val | |
| ENST00000375581.3:c.1061C>T | ENSP00000364731.3:p.Ala354Val | |
| ENST00000541084.5:c.809C>T | ENSP00000442051.2:p.Ala270Val | |
| NM_000131.4:c.1061C>T , LRG_554t1:c.1061C>T | NP_000122.1:p.Ala354Val | |
| NM_001267554.1:c.809C>T | NP_001254483.1:p.Ala270Val | |
| NM_019616.3:c.995C>T , LRG_554t2:c.995C>T | NP_062562.1:p.Ala332Val | |
| NR_051961.1:n.1082C>T | ||
| XM_006719963.2:c.854C>T | XP_006720026.1:p.Ala285Val | |
| XM_011537474.1:c.1103C>T | XP_011535776.1:p.Ala368Val | |
| XM_011537475.1:c.917C>T | XP_011535777.1:p.Ala306Val | |
| XM_011537476.1:c.755C>T | XP_011535778.1:p.Ala252Val | |
| XM_011537477.1:c.1064C>T | XP_011535779.1:p.Ala355Val | |
| XM_006719963.3:c.899C>T | XP_006720026.2:p.Ala300Val | |
| XM_011537474.2:c.1148C>T | XP_011535776.2:p.Ala383Val | |
| XM_011537475.2:c.962C>T | XP_011535777.2:p.Ala321Val | |
| XM_011537476.2:c.755C>T | XP_011535778.1:p.Ala252Val | |
| NM_019616.4:c.995C>T MANE Select | NP_062562.1:p.Ala332Val | |
| NR_051961.2:n.1079C>T | ||
| NM_001267554.2:c.809C>T | NP_001254483.1:p.Ala270Val |