Linked Data
ClinVar Variation Id:
2940077
ClinVar RCV Id:
RCV003797435
dbSNP Id:
rs765307992
ExAC:
3:33038759 G / A
gnomAD v2:
3-33038759-G-A
gnomAD v4:
3-32997267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997267G>A , CM000665.2:g.32997267G>A | GRCh38 |
| NC_000003.11:g.33038759G>A , CM000665.1:g.33038759G>A | GRCh37 |
| NC_000003.10:g.33013763G>A | NCBI36 |
| NG_009005.1:g.104936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1812C>T MANE Select | ENSP00000306920.4:p.Pro604= | |
| ENST00000307363.9:c.1812C>T | ENSP00000306920.4:p.Pro604= | |
| ENST00000307377.12:c.1419C>T | ENSP00000305920.8:p.Pro473= | |
| ENST00000399402.7:c.1722C>T | ENSP00000382333.2:p.Pro574= | |
| NM_000404.2:c.1812C>T | NP_000395.2:p.Pro604= | |
| NM_000404.3:c.1812C>T | NP_000395.2:p.Pro604= | |
| NM_001079811.1:c.1722C>T | NP_001073279.1:p.Pro574= | |
| NM_001079811.2:c.1722C>T | NP_001073279.1:p.Pro574= | |
| NM_001135602.1:c.1419C>T | NP_001129074.1:p.Pro473= | |
| NM_001135602.2:c.1419C>T | NP_001129074.1:p.Pro473= | |
| NM_001317040.1:c.1956C>T | NP_001303969.1:p.Pro652= | |
| NM_000404.4:c.1812C>T MANE Select | NP_000395.3:p.Pro604= | |
| NM_001079811.3:c.1722C>T | NP_001073279.2:p.Pro574= | |
| NM_001135602.3:c.1419C>T | NP_001129074.2:p.Pro473= | |
| NM_001317040.2:c.1956C>T | NP_001303969.2:p.Pro652= | |
| NM_001393580.1:c.1734+16789C>T | NP_001380509.1:n.1734+16789C>T |