Linked Data
ClinVar Variation Id:
12084
ClinVar RCV Id:
RCV000012865
dbSNP Id:
rs121964933
gnomAD v2:
13-113768207-C-A
gnomAD v3:
13-113113893-C-A
gnomAD v4:
13-113113893-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113113893C>A , CM000675.2:g.113113893C>A | GRCh38 |
| NC_000013.10:g.113768207C>A , CM000675.1:g.113768207C>A | GRCh37 |
| NC_000013.9:g.112816208C>A | NCBI36 |
| NG_009262.1:g.13103C>A , LRG_554:g.13103C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.297C>A MANE Select | ENSP00000329546.4:p.Cys99Ter | |
| ENST00000346342.7:c.297C>A | ENSP00000329546.3:p.Cys99Ter | |
| ENST00000375581.3:c.363C>A | ENSP00000364731.3:p.Cys121Ter | |
| ENST00000444337.1:c.*105C>A | ENSP00000387669.1:n.*105C>A | |
| ENST00000473085.1:n.244C>A | ||
| ENST00000479674.1:n.630C>A | ||
| ENST00000541084.5:c.111C>A | ENSP00000442051.2:p.Cys37Ter | |
| NM_000131.4:c.363C>A , LRG_554t1:c.363C>A | NP_000122.1:p.Cys121Ter | |
| NM_001267554.1:c.111C>A | NP_001254483.1:p.Cys37Ter | |
| NM_019616.3:c.297C>A , LRG_554t2:c.297C>A | NP_062562.1:p.Cys99Ter | |
| NR_051961.1:n.384C>A | ||
| XM_006719963.2:c.297C>A | XP_006720026.1:p.Cys99Ter | |
| XM_011537474.1:c.297C>A | XP_011535776.1:p.Cys99Ter | |
| XM_011537475.1:c.111C>A | XP_011535777.1:p.Cys37Ter | |
| XM_011537477.1:c.258C>A | XP_011535779.1:p.Cys86Ter | |
| XM_006719963.3:c.342C>A | XP_006720026.2:p.Cys114Ter | |
| XM_011537474.2:c.342C>A | XP_011535776.2:p.Cys114Ter | |
| XM_011537475.2:c.156C>A | XP_011535777.2:p.Cys52Ter | |
| NM_019616.4:c.297C>A MANE Select | NP_062562.1:p.Cys99Ter | |
| NR_051961.2:n.381C>A | ||
| NM_001267554.2:c.111C>A | NP_001254483.1:p.Cys37Ter |