Linked Data
ClinVar Variation Id:
417789
ClinVar RCV Id:
RCV000477690
dbSNP Id:
rs766087213
ExAC:
8:96272700 T / A
gnomAD v2:
8-96272700-T-A
gnomAD v4:
8-95260472-T-A
PubMed:
PMID:27008867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95260472T>A , CM000670.2:g.95260472T>A | GRCh38 |
| NC_000008.10:g.96272700T>A , CM000670.1:g.96272700T>A | GRCh37 |
| NC_000008.9:g.96341876T>A | NCBI36 |
| NG_032804.1:g.13763A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.304A>T MANE Select | ENSP00000286688.5:p.Lys102Ter | |
| ENST00000286688.5:c.304A>T | ENSP00000286688.5:p.Lys102Ter | |
| NM_177965.3:c.304A>T | NP_808880.1:p.Lys102Ter | |
| XM_005250799.2:c.643A>T | XP_005250856.2:p.Lys215Ter | |
| NM_001363260.1:c.304A>T | NP_001350189.1:p.Lys102Ter | |
| NM_177965.4:c.304A>T MANE Select | NP_808880.1:p.Lys102Ter |