Linked Data
ClinVar Variation Id:
437973
ClinVar RCV Id:
RCV000504823
dbSNP Id:
rs1555488573
gnomAD v4:
16-57903940-G-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57903940G>T , CM000678.2:g.57903940G>T | GRCh38 |
| NC_000016.9:g.57937844G>T , CM000678.1:g.57937844G>T | GRCh37 |
| NC_000016.8:g.56495345G>T | NCBI36 |
| NG_016351.1:g.72177C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.2676C>A MANE Select | ENSP00000251102.8:p.Tyr892Ter | |
| ENST00000251102.12:c.2676C>A | ENSP00000251102.8:p.Tyr892Ter | |
| ENST00000564448.5:c.2658C>A | ENSP00000454633.1:p.Tyr886Ter | |
| ENST00000569643.1:n.333C>A | ||
| NM_001286130.1:c.2658C>A | NP_001273059.1:p.Tyr886Ter | |
| NM_001297.4:c.2676C>A | NP_001288.3:p.Tyr892Ter | |
| XM_006721134.2:c.2676C>A | XP_006721197.1:p.Tyr892Ter | |
| XM_011522870.1:c.1527C>A | XP_011521172.1:p.Tyr509Ter | |
| XM_011522870.2:c.1527C>A | XP_011521172.1:p.Tyr509Ter | |
| NM_001286130.2:c.2658C>A | NP_001273059.1:p.Tyr886Ter | |
| NM_001297.5:c.2676C>A MANE Select | NP_001288.3:p.Tyr892Ter |