Linked Data
ClinVar Variation Id:
8749
ClinVar RCV Id:
RCV000009290
dbSNP Id:
rs104894200
gnomAD v4:
11-2884750-G-T
PubMed:
PMID:9341892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884750G>T , CM000673.2:g.2884750G>T | GRCh38 |
| NC_000011.9:g.2905980G>T , CM000673.1:g.2905980G>T | GRCh37 |
| NC_000011.8:g.2862556G>T | NCBI36 |
| NG_008022.1:g.6016C>A , LRG_533:g.6016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.143-616C>A | ||
| ENST00000380725.2:c.255+452C>A | ENSP00000370101.1:n.255+452C>A | |
| ENST00000414822.8:c.740C>A | ENSP00000413720.3:p.Ser247Ter | |
| ENST00000430149.3:c.740C>A | ENSP00000411552.2:p.Ser247Ter | |
| ENST00000440480.8:c.707C>A MANE Select | ENSP00000411257.2:p.Ser236Ter | |
| ENST00000647251.1:c.255+452C>A | ENSP00000496631.1:n.255+452C>A | |
| ENST00000380725.1:c.255+452C>A | ENSP00000370101.1:n.255+452C>A | |
| ENST00000414822.7:c.740C>A | ENSP00000413720.3:p.Ser247Ter | |
| ENST00000430149.2:c.740C>A | ENSP00000411552.2:p.Ser247Ter | |
| ENST00000440480.6:c.707C>A | ENSP00000411257.2:p.Ser236Ter | |
| NM_000076.2:c.740C>A , LRG_533t1:c.740C>A | NP_000067.1:p.Ser247Ter | |
| NM_001122630.1:c.707C>A | NP_001116102.1:p.Ser236Ter | |
| NM_001122631.1:c.707C>A | NP_001116103.1:p.Ser236Ter | |
| XM_005252732.3:c.255+452C>A | XP_005252789.1:n.255+452C>A | |
| NM_001362474.1:c.740C>A | NP_001349403.1:p.Ser247Ter | |
| NM_001362475.1:c.255+452C>A | NP_001349404.1:n.255+452C>A | |
| NM_001122630.2:c.707C>A MANE Select | NP_001116102.1:p.Ser236Ter | |
| NM_001122631.2:c.707C>A | NP_001116103.1:p.Ser236Ter | |
| NM_001362474.2:c.740C>A | NP_001349403.1:p.Ser247Ter | |
| NM_001362475.2:c.255+452C>A | NP_001349404.1:n.255+452C>A |