Linked Data
ClinVar Variation Id:
2986269
ClinVar RCV Id:
RCV003843940
dbSNP Id:
rs1317926847
gnomAD v2:
15-38643397-A-T
gnomAD v3:
15-38351196-A-T
gnomAD v4:
15-38351196-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351196A>T , CM000677.2:g.38351196A>T | GRCh38 |
| NC_000015.9:g.38643397A>T , CM000677.1:g.38643397A>T | GRCh37 |
| NC_000015.8:g.36430689A>T | NCBI36 |
| NG_008980.1:g.103346A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.867A>T MANE Select | ENSP00000299084.4:p.Lys289Asn | |
| ENST00000299084.8:c.867A>T | ENSP00000299084.4:p.Lys289Asn | |
| NM_152594.2:c.867A>T | NP_689807.1:p.Lys289Asn | |
| XM_005254202.2:c.903A>T | XP_005254259.1:p.Lys301Asn | |
| XM_005254203.3:c.645A>T | XP_005254260.1:p.Lys215Asn | |
| XM_011521288.1:c.804A>T | XP_011519590.1:p.Lys268Asn | |
| XM_011521289.1:c.804A>T | XP_011519591.1:p.Lys268Asn | |
| XM_011521290.1:c.804A>T | XP_011519592.1:p.Lys268Asn | |
| XM_005254202.3:c.903A>T | XP_005254259.1:p.Lys301Asn | |
| XM_011521289.3:c.804A>T | XP_011519591.1:p.Lys268Asn | |
| NM_152594.3:c.867A>T MANE Select | NP_689807.1:p.Lys289Asn |