Linked Data
ClinVar Variation Id:
30857
ClinVar RCV Id:
RCV000023842
dbSNP Id:
rs387907031
gnomAD v4:
3-119413976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413976C>T , CM000665.2:g.119413976C>T | GRCh38 |
| NC_000003.11:g.119132823C>T , CM000665.1:g.119132823C>T | GRCh37 |
| NC_000003.10:g.120615513C>T | NCBI36 |
| NG_007665.2:g.124604C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2047C>T MANE Select | ENSP00000264245.4:p.Gln683Ter | |
| ENST00000264245.8:c.2047C>T | ENSP00000264245.4:p.Gln683Ter | |
| NM_020754.3:c.2047C>T | NP_065805.2:p.Gln683Ter | |
| XM_005247671.3:c.1954C>T | XP_005247728.1:p.Gln652Ter | |
| XM_006713714.2:c.1987C>T | XP_006713777.1:p.Gln663Ter | |
| XM_006713714.3:c.1987C>T | XP_006713777.1:p.Gln663Ter | |
| XM_017006955.1:c.1555C>T | XP_016862444.1:p.Gln519Ter | |
| NM_020754.4:c.2047C>T MANE Select | NP_065805.2:p.Gln683Ter |