Linked Data
ClinVar Variation Id:
1116502
ClinVar RCV Id:
RCV001444910
dbSNP Id:
rs545982076
gnomAD v2:
3-33038657-G-A
gnomAD v3:
3-32997165-G-A
gnomAD v4:
3-32997165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997165G>A , CM000665.2:g.32997165G>A | GRCh38 |
| NC_000003.11:g.33038657G>A , CM000665.1:g.33038657G>A | GRCh37 |
| NC_000003.10:g.33013661G>A | NCBI36 |
| NG_009005.1:g.105038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1914C>T MANE Select | ENSP00000306920.4:p.Phe638= | |
| ENST00000307363.9:c.1914C>T | ENSP00000306920.4:p.Phe638= | |
| ENST00000307377.12:c.1521C>T | ENSP00000305920.8:p.Phe507= | |
| ENST00000399402.7:c.1824C>T | ENSP00000382333.2:p.Phe608= | |
| NM_000404.2:c.1914C>T | NP_000395.2:p.Phe638= | |
| NM_000404.3:c.1914C>T | NP_000395.2:p.Phe638= | |
| NM_001079811.1:c.1824C>T | NP_001073279.1:p.Phe608= | |
| NM_001079811.2:c.1824C>T | NP_001073279.1:p.Phe608= | |
| NM_001135602.1:c.1521C>T | NP_001129074.1:p.Phe507= | |
| NM_001135602.2:c.1521C>T | NP_001129074.1:p.Phe507= | |
| NM_001317040.1:c.2058C>T | NP_001303969.1:p.Phe686= | |
| NM_000404.4:c.1914C>T MANE Select | NP_000395.3:p.Phe638= | |
| NM_001079811.3:c.1824C>T | NP_001073279.2:p.Phe608= | |
| NM_001135602.3:c.1521C>T | NP_001129074.2:p.Phe507= | |
| NM_001317040.2:c.2058C>T | NP_001303969.2:p.Phe686= | |
| NM_001393580.1:c.1734+16891C>T | NP_001380509.1:n.1734+16891C>T |