Linked Data
ClinVar Variation Id:
2019293
ClinVar RCV Id:
RCV002846995
dbSNP Id:
rs753890181
ExAC:
2:99012485 C / T
gnomAD v2:
2-99012485-C-T
gnomAD v4:
2-98396022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396022C>T , CM000664.2:g.98396022C>T | GRCh38 |
| NC_000002.11:g.99012485C>T , CM000664.1:g.99012485C>T | GRCh37 |
| NC_000002.10:g.98378917C>T | NCBI36 |
| NG_009097.1:g.54868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.852C>T MANE Select | ENSP00000272602.2:p.Leu284= | |
| ENST00000272602.6:c.852C>T | ENSP00000272602.2:p.Leu284= | |
| ENST00000393504.5:c.852C>T | ENSP00000377140.1:p.Leu284= | |
| ENST00000409937.1:c.864C>T | ENSP00000386761.1:p.Leu288= | |
| ENST00000436404.6:c.798C>T | ENSP00000410070.2:p.Leu266= | |
| NM_001079878.1:c.798C>T | NP_001073347.1:p.Leu266= | |
| NM_001298.2:c.852C>T | NP_001289.1:p.Leu284= | |
| XM_006712243.2:c.963C>T | XP_006712306.1:p.Leu321= | |
| XM_011510554.1:c.1017C>T | XP_011508856.1:p.Leu339= | |
| XM_011510554.2:c.1017C>T | XP_011508856.1:p.Leu339= | |
| NM_001079878.2:c.798C>T | NP_001073347.1:p.Leu266= | |
| NM_001298.3:c.852C>T MANE Select | NP_001289.1:p.Leu284= |