Linked Data
ClinVar Variation Id:
437974
ClinVar RCV Id:
RCV000505139
dbSNP Id:
rs1555488069
gnomAD v4:
16-57897911-C-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57897911C>A , CM000678.2:g.57897911C>A | GRCh38 |
| NC_000016.9:g.57931815C>A , CM000678.1:g.57931815C>A | GRCh37 |
| NC_000016.8:g.56489316C>A | NCBI36 |
| NG_016351.1:g.78206G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.2980G>T MANE Select | ENSP00000251102.8:p.Glu994Ter | |
| ENST00000251102.12:c.2980G>T | ENSP00000251102.8:p.Glu994Ter | |
| ENST00000564448.5:c.2962G>T | ENSP00000454633.1:p.Glu988Ter | |
| ENST00000565942.1:c.26G>T | ||
| ENST00000569643.1:n.637G>T | ||
| NM_001286130.1:c.2962G>T | NP_001273059.1:p.Glu988Ter | |
| NM_001297.4:c.2980G>T | NP_001288.3:p.Glu994Ter | |
| XM_006721134.2:c.2980G>T | XP_006721197.1:p.Glu994Ter | |
| XM_011522870.1:c.1831G>T | XP_011521172.1:p.Glu611Ter | |
| XM_011522870.2:c.1831G>T | XP_011521172.1:p.Glu611Ter | |
| NM_001286130.2:c.2962G>T | NP_001273059.1:p.Glu988Ter | |
| NM_001297.5:c.2980G>T MANE Select | NP_001288.3:p.Glu994Ter |