Linked Data
ClinVar Variation Id:
311242
ClinVar RCV Id:
RCV000380864
dbSNP Id:
rs886049993
gnomAD v3:
13-113119590-C-T
gnomAD v4:
13-113119590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113119590C>T , CM000675.2:g.113119590C>T | GRCh38 |
| NC_000013.10:g.113773904C>T , CM000675.1:g.113773904C>T | GRCh37 |
| NC_000013.9:g.112821905C>T | NCBI36 |
| NG_009258.1:g.1792C>T , LRG_548:g.1792C>T | |
| NG_009262.1:g.18800C>T , LRG_554:g.18800C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.*582C>T MANE Select | ENSP00000329546.4:n.*582C>T | |
| ENST00000346342.7:c.*582C>T | ENSP00000329546.3:n.*582C>T | |
| ENST00000375581.3:c.*582C>T | ENSP00000364731.3:n.*582C>T | |
| ENST00000541084.5:c.*582C>T | ENSP00000442051.2:n.*582C>T | |
| NM_000131.4:c.*582C>T , LRG_554t1:c.*582C>T | NP_000122.1:n.*582C>T | |
| NM_001267554.1:c.*582C>T | NP_001254483.1:n.*582C>T | |
| NM_019616.3:c.*582C>T , LRG_554t2:c.*582C>T | NP_062562.1:n.*582C>T | |
| NR_051961.1:n.2004C>T | ||
| XM_006719963.2:c.*582C>T | XP_006720026.1:n.*582C>T | |
| XM_011537474.1:c.*582C>T | XP_011535776.1:n.*582C>T | |
| XM_011537475.1:c.*582C>T | XP_011535777.1:n.*582C>T | |
| XM_011537476.1:c.*582C>T | XP_011535778.1:n.*582C>T | |
| XM_011537477.1:c.*582C>T | XP_011535779.1:n.*582C>T | |
| XM_006719963.3:c.*582C>T | XP_006720026.2:n.*582C>T | |
| XM_011537474.2:c.*582C>T | XP_011535776.2:n.*582C>T | |
| XM_011537475.2:c.*582C>T | XP_011535777.2:n.*582C>T | |
| XM_011537476.2:c.*582C>T | XP_011535778.1:n.*582C>T | |
| NM_019616.4:c.*582C>T MANE Select | NP_062562.1:n.*582C>T | |
| NR_051961.2:n.2001C>T | ||
| NM_001267554.2:c.*582C>T | NP_001254483.1:n.*582C>T |