Linked Data
ClinVar Variation Id:
91393
dbSNP Id:
rs398122963
gnomAD v2:
2-182438495-T-A
gnomAD v3:
2-181573768-T-A
gnomAD v4:
2-181573768-T-A
PubMed:
PMID:24043777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181573768T>A , CM000664.2:g.181573768T>A | GRCh38 |
| NC_000002.11:g.182438495T>A , CM000664.1:g.182438495T>A | GRCh37 |
| NC_000002.10:g.182146740T>A | NCBI36 |
| NG_021178.1:g.88340A>T | |
| NG_021178.2:g.88340A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684145.1:c.-95A>T | ENSP00000508396.1:n.-95A>T | |
| ENST00000410087.8:c.598A>T MANE Select | ENSP00000386725.3:p.Lys200Ter | |
| ENST00000339098.9:c.598A>T | ENSP00000341159.5:p.Lys200Ter | |
| ENST00000374967.6:c.598A>T | ENSP00000364106.2:p.Lys200Ter | |
| ENST00000374969.6:c.482-24060A>T | ENSP00000364108.2:n.482-24060A>T | |
| ENST00000374970.6:c.598A>T | ENSP00000364109.2:p.Lys200Ter | |
| ENST00000409440.7:c.482-7647A>T | ENSP00000387080.3:n.482-7647A>T | |
| ENST00000410087.7:c.598A>T | ENSP00000386725.3:p.Lys200Ter | |
| ENST00000421817.5:c.482-15060A>T | ENSP00000411466.1:n.482-15060A>T | |
| ENST00000452174.5:c.482-15060A>T | ENSP00000409198.1:n.482-15060A>T | |
| ENST00000460319.5:n.517A>T | ||
| ENST00000466715.5:n.478A>T | ||
| ENST00000476070.1:n.497A>T | ||
| ENST00000479558.5:n.596A>T | ||
| ENST00000494398.5:n.598A>T | ||
| NM_001030311.2:c.598A>T | NP_001025482.1:p.Lys200Ter | |
| NM_001030312.2:c.482-24060A>T | NP_001025483.1:n.482-24060A>T | |
| NM_001030313.2:c.598A>T | NP_001025484.1:p.Lys200Ter | |
| NM_001160277.1:c.482-7647A>T | NP_001153749.1:n.482-7647A>T | |
| NM_201548.4:c.598A>T | NP_963842.1:p.Lys200Ter | |
| NR_027689.1:n.583-15060A>T | ||
| NR_027690.1:n.699A>T | ||
| NM_201548.5:c.598A>T MANE Select | NP_963842.1:p.Lys200Ter | |
| NM_001030311.3:c.598A>T | NP_001025482.1:p.Lys200Ter | |
| NM_001030312.3:c.482-24060A>T | NP_001025483.1:n.482-24060A>T | |
| NM_001030313.3:c.598A>T | NP_001025484.1:p.Lys200Ter | |
| NM_001160277.2:c.482-7647A>T | NP_001153749.1:n.482-7647A>T | |
| NR_027689.2:n.581-15060A>T | ||
| NR_027690.2:n.697A>T |