Linked Data
ClinVar Variation Id:
1679462
ClinVar RCV Id:
RCV002227341
dbSNP Id:
rs897031749
gnomAD v2:
16-88786120-C-T
gnomAD v4:
16-88719712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719712C>T , CM000678.2:g.88719712C>T | GRCh38 |
| NC_000016.9:g.88786120C>T , CM000678.1:g.88786120C>T | GRCh37 |
| NC_000016.8:g.87313621C>T | NCBI36 |
| NG_042229.1:g.70509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6333G>A MANE Select | ENSP00000301015.9:p.Leu2111= | |
| ENST00000466823.3:c.359G>A | ||
| ENST00000301015.13:c.6333G>A | ENSP00000301015.9:p.Leu2111= | |
| ENST00000419505.5:c.99G>A | ENSP00000406358.1:p.Leu33= | |
| ENST00000466823.2:c.359G>A | ||
| ENST00000495568.7:n.574G>A | ||
| ENST00000497793.2:n.488G>A | ||
| NM_001142864.2:c.6333G>A | NP_001136336.2:p.Leu2111= | |
| NM_001142864.3:c.6333G>A | NP_001136336.2:p.Leu2111= | |
| NM_001142864.4:c.6333G>A MANE Select | NP_001136336.2:p.Leu2111= |