Linked Data
ClinVar Variation Id:
472427
dbSNP Id:
rs376360090
ExAC:
3:128200782 G / A
gnomAD v2:
3-128200782-G-A
gnomAD v3:
3-128481939-G-A
gnomAD v4:
3-128481939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481939G>A , CM000665.2:g.128481939G>A | GRCh38 |
| NC_000003.11:g.128200782G>A , CM000665.1:g.128200782G>A | GRCh37 |
| NC_000003.10:g.129683472G>A | NCBI36 |
| NG_029334.1:g.16249C>T , LRG_295:g.16249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1023C>T MANE Plus Clinical | ENSP00000417074.1:p.Ala341= | |
| ENST00000696466.1:c.1305C>T | ENSP00000512647.1:p.Ala435= | |
| ENST00000696672.1:c.6C>T | ENSP00000512796.1:p.Ala2= | |
| ENST00000341105.7:c.1023C>T MANE Select | ENSP00000345681.2:p.Ala341= | |
| ENST00000341105.6:c.1023C>T | ENSP00000345681.2:p.Ala341= | |
| ENST00000430265.6:c.1018-37C>T | ENSP00000400259.2:n.1018-37C>T | |
| ENST00000487848.5:c.1023C>T | ENSP00000417074.1:p.Ala341= | |
| ENST00000489987.1:n.140C>T | ||
| NM_001145661.1:c.1023C>T , LRG_295t1:c.1023C>T | NP_001139133.1:p.Ala341= | |
| NM_001145662.1:c.1018-37C>T | NP_001139134.1:n.1018-37C>T | |
| NM_032638.4:c.1023C>T , LRG_295t2:c.1023C>T | NP_116027.2:p.Ala341= | |
| NM_001145661.2:c.1023C>T MANE Plus Clinical | NP_001139133.1:p.Ala341= | |
| NM_032638.5:c.1023C>T MANE Select | NP_116027.2:p.Ala341= |