Linked Data
ClinVar Variation Id:
1362785
ClinVar RCV Id:
RCV001934589
dbSNP Id:
rs2143655542
gnomAD v4:
17-42687775-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687775G>A , CM000679.2:g.42687775G>A | GRCh38 |
| NC_000017.10:g.40839793G>A , CM000679.1:g.40839793G>A | GRCh37 |
| NC_000017.9:g.38093319G>A | NCBI36 |
| NG_042091.1:g.10162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1100G>A MANE Select | ENSP00000264638.3:p.Gly367Asp | |
| ENST00000264638.8:c.1100G>A | ENSP00000264638.3:p.Gly367Asp | |
| ENST00000586801.1:n.515G>A | ||
| ENST00000591662.1:c.1100G>A | ENSP00000466571.1:p.Gly367Asp | |
| NM_003632.2:c.1100G>A | NP_003623.1:p.Gly367Asp | |
| XM_005257748.3:c.872G>A | XP_005257805.1:p.Gly291Asp | |
| XM_005257748.4:c.872G>A | XP_005257805.1:p.Gly291Asp | |
| XM_017025238.1:c.1100G>A | XP_016880727.1:p.Gly367Asp | |
| XM_024451011.1:c.1100G>A | XP_024306779.1:p.Gly367Asp | |
| NM_003632.3:c.1100G>A MANE Select | NP_003623.1:p.Gly367Asp |