Linked Data
dbSNP Id:
rs750260671
gnomAD v2:
2-219757907-G-A
gnomAD v3:
2-218893185-G-A
gnomAD v4:
2-218893185-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893185G>A , CM000664.2:g.218893185G>A | GRCh38 |
| NC_000002.11:g.219757907G>A , CM000664.1:g.219757907G>A | GRCh37 |
| NC_000002.10:g.219466151G>A | NCBI36 |
| NG_012179.1:g.17653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1168G>A MANE Select | ENSP00000258411.3:p.Glu390Lys | |
| ENST00000258411.7:c.1168G>A | ENSP00000258411.3:p.Glu390Lys | |
| NM_025216.2:c.1168G>A | NP_079492.2:p.Glu390Lys | |
| XM_011511928.1:c.1117G>A | XP_011510230.1:p.Glu373Lys | |
| XM_011511929.1:c.1072G>A | XP_011510231.1:p.Glu358Lys | |
| XM_011511930.1:c.788G>A | XP_011510232.1:p.Arg263Gln | |
| XM_011511929.2:c.1072G>A | XP_011510231.1:p.Glu358Lys | |
| NM_025216.3:c.1168G>A MANE Select | NP_079492.2:p.Glu390Lys |