Linked Data
ClinVar Variation Id:
472445
ClinVar RCV Id:
RCV000538147
dbSNP Id:
rs1169516070
gnomAD v2:
3-128199933-G-A
gnomAD v4:
3-128481090-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481090G>A , CM000665.2:g.128481090G>A | GRCh38 |
| NC_000003.11:g.128199933G>A , CM000665.1:g.128199933G>A | GRCh37 |
| NC_000003.10:g.129682623G>A | NCBI36 |
| NG_029334.1:g.17098C>T , LRG_295:g.17098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1372C>T MANE Plus Clinical | ENSP00000417074.1:p.Pro458Ser | |
| ENST00000696466.1:c.1654C>T | ENSP00000512647.1:p.Pro552Ser | |
| ENST00000696672.1:c.347C>T | ENSP00000512796.1:p.Ala116Val | |
| ENST00000341105.7:c.1372C>T MANE Select | ENSP00000345681.2:p.Pro458Ser | |
| ENST00000341105.6:c.1372C>T | ENSP00000345681.2:p.Pro458Ser | |
| ENST00000430265.6:c.1330C>T | ENSP00000400259.2:p.Pro444Ser | |
| ENST00000487848.5:c.1372C>T | ENSP00000417074.1:p.Pro458Ser | |
| ENST00000489987.1:n.489C>T | ||
| NM_001145661.1:c.1372C>T , LRG_295t1:c.1372C>T | NP_001139133.1:p.Pro458Ser | |
| NM_001145662.1:c.1330C>T | NP_001139134.1:p.Pro444Ser | |
| NM_032638.4:c.1372C>T , LRG_295t2:c.1372C>T | NP_116027.2:p.Pro458Ser | |
| NM_001145661.2:c.1372C>T MANE Plus Clinical | NP_001139133.1:p.Pro458Ser | |
| NM_032638.5:c.1372C>T MANE Select | NP_116027.2:p.Pro458Ser |