Linked Data
ClinVar Variation Id:
1029977
ClinVar RCV Id:
RCV001331415
dbSNP Id:
rs1260261553
gnomAD v2:
8-82571701-C-T
gnomAD v4:
8-81659466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81659466C>T , CM000670.2:g.81659466C>T | GRCh38 |
| NC_000008.10:g.82571701C>T , CM000670.1:g.82571701C>T | GRCh37 |
| NC_000008.9:g.82734256C>T | NCBI36 |
| NG_015829.1:g.31889G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256108.10:c.719G>A MANE Select | ENSP00000256108.5:p.Gly240Asp | |
| ENST00000256108.9:c.719G>A | ENSP00000256108.5:p.Gly240Asp | |
| ENST00000311489.8:c.*13G>A | ENSP00000311803.4:n.*13G>A | |
| ENST00000449740.6:c.896G>A | ENSP00000408526.2:p.Gly299Asp | |
| NM_001144878.1:c.896G>A | NP_001138350.1:p.Gly299Asp | |
| NM_001144879.1:c.*13G>A | NP_001138351.1:n.*13G>A | |
| NM_005536.3:c.719G>A | NP_005527.1:p.Gly240Asp | |
| NM_005536.4:c.719G>A MANE Select | NP_005527.1:p.Gly240Asp | |
| NM_001144878.2:c.896G>A | NP_001138350.1:p.Gly299Asp | |
| NM_001144879.2:c.*13G>A | NP_001138351.1:n.*13G>A |