Linked Data
ClinVar Variation Id:
489127
dbSNP Id:
rs1448259297
gnomAD v2:
13-41367384-C-T
gnomAD v4:
13-40793248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40793248C>T , CM000675.2:g.40793248C>T | GRCh38 |
| NC_000013.10:g.41367384C>T , CM000675.1:g.41367384C>T | GRCh37 |
| NC_000013.9:g.40265384C>T | NCBI36 |
| NG_012248.1:g.8838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.22C>T | ENSP00000516711.1:p.Gln8Ter | |
| ENST00000338625.9:c.22C>T MANE Select | ENSP00000342267.4:p.Gln8Ter | |
| ENST00000338625.8:c.22C>T | ENSP00000342267.4:p.Gln8Ter | |
| ENST00000417731.5:c.22C>T | ENSP00000415826.1:p.Gln8Ter | |
| ENST00000470509.1:c.22C>T | ENSP00000431429.1:p.Gln8Ter | |
| ENST00000478827.1:n.343C>T | ||
| NM_014252.3:c.22C>T | NP_055067.1:p.Gln8Ter | |
| NM_014252.4:c.22C>T MANE Select | NP_055067.1:p.Gln8Ter |