Linked Data
ClinVar Variation Id:
2855633
ClinVar RCV Id:
RCV003632150
dbSNP Id:
rs1363752047
gnomAD v2:
1-43394682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929011C>T , CM000663.2:g.42929011C>T | GRCh38 |
| NC_000001.10:g.43394682C>T , CM000663.1:g.43394682C>T | GRCh37 |
| NC_000001.9:g.43167269C>T | NCBI36 |
| NG_008232.1:g.35166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.995G>A MANE Select | ENSP00000416293.2:p.Gly332Asp | |
| ENST00000674545.1:n.489G>A | ||
| ENST00000674765.1:c.995G>A | ENSP00000501811.1:p.Gly332Asp | |
| ENST00000675112.1:n.1296G>A | ||
| ENST00000676254.1:n.1444G>A | ||
| ENST00000426263.7:c.995G>A | ENSP00000416293.2:p.Gly332Asp | |
| ENST00000475162.3:c.415+1615G>A | ||
| ENST00000630287.2:c.*310G>A | ENSP00000486694.1:n.*310G>A | |
| NM_006516.2:c.995G>A | NP_006507.2:p.Gly332Asp | |
| NM_006516.3:c.995G>A | NP_006507.2:p.Gly332Asp | |
| NM_006516.4:c.995G>A MANE Select | NP_006507.2:p.Gly332Asp |