Linked Data
ClinVar Variation Id:
378862
dbSNP Id:
rs750260671
ExAC:
2:219757907 G / T
gnomAD v2:
2-219757907-G-T
gnomAD v4:
2-218893185-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893185G>T , CM000664.2:g.218893185G>T | GRCh38 |
| NC_000002.11:g.219757907G>T , CM000664.1:g.219757907G>T | GRCh37 |
| NC_000002.10:g.219466151G>T | NCBI36 |
| NG_012179.1:g.17653G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1168G>T MANE Select | ENSP00000258411.3:p.Glu390Ter | |
| ENST00000258411.7:c.1168G>T | ENSP00000258411.3:p.Glu390Ter | |
| NM_025216.2:c.1168G>T | NP_079492.2:p.Glu390Ter | |
| XM_011511928.1:c.1117G>T | XP_011510230.1:p.Glu373Ter | |
| XM_011511929.1:c.1072G>T | XP_011510231.1:p.Glu358Ter | |
| XM_011511930.1:c.788G>T | XP_011510232.1:p.Arg263Leu | |
| XM_011511929.2:c.1072G>T | XP_011510231.1:p.Glu358Ter | |
| NM_025216.3:c.1168G>T MANE Select | NP_079492.2:p.Glu390Ter |