Linked Data
ClinVar Variation Id:
2926868
ClinVar RCV Id:
RCV003789106
dbSNP Id:
rs1244976641
gnomAD v2:
17-68172008-C-T
gnomAD v3:
17-70175867-C-T
gnomAD v4:
17-70175867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175867C>T , CM000679.2:g.70175867C>T | GRCh38 |
| NC_000017.10:g.68172008C>T , CM000679.1:g.68172008C>T | GRCh37 |
| NC_000017.9:g.65683603C>T | NCBI36 |
| NG_008798.1:g.11333C>T , LRG_328:g.11333C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.828C>T MANE Select | ENSP00000243457.2:p.Asp276= | |
| ENST00000243457.3:c.828C>T | ENSP00000243457.2:p.Asp276= | |
| ENST00000535240.1:c.828C>T | ENSP00000441848.1:p.Asp276= | |
| NM_000891.2:c.828C>T , LRG_328t1:c.828C>T | NP_000882.1:p.Asp276= | |
| XM_011524779.1:c.828C>T | XP_011523081.1:p.Asp276= | |
| NM_000891.3:c.828C>T MANE Select | NP_000882.1:p.Asp276= |