Linked Data
ClinVar Variation Id:
343128
ClinVar RCV Id:
RCV000400839
dbSNP Id:
rs112947643
gnomAD v2:
3-128199672-G-A
gnomAD v3:
3-128480829-G-A
gnomAD v4:
3-128480829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128480829G>A , CM000665.2:g.128480829G>A | GRCh38 |
| NC_000003.11:g.128199672G>A , CM000665.1:g.128199672G>A | GRCh37 |
| NC_000003.10:g.129682362G>A | NCBI36 |
| NG_029334.1:g.17359C>T , LRG_295:g.17359C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.*190C>T MANE Plus Clinical | ENSP00000417074.1:n.*190C>T | |
| ENST00000696466.1:c.*190C>T | ENSP00000512647.1:n.*190C>T | |
| ENST00000696672.1:c.608C>T | ENSP00000512796.1:n.608C>T | |
| ENST00000341105.7:c.*190C>T MANE Select | ENSP00000345681.2:n.*190C>T | |
| ENST00000341105.6:c.*190C>T | ENSP00000345681.2:n.*190C>T | |
| ENST00000430265.6:c.*190C>T | ENSP00000400259.2:n.*190C>T | |
| ENST00000489987.1:n.750C>T | ||
| NM_001145661.1:c.*190C>T , LRG_295t1:c.*190C>T | NP_001139133.1:n.*190C>T | |
| NM_001145662.1:c.*190C>T | NP_001139134.1:n.*190C>T | |
| NM_032638.4:c.*190C>T , LRG_295t2:c.*190C>T | NP_116027.2:n.*190C>T | |
| NM_001145661.2:c.*190C>T MANE Plus Clinical | NP_001139133.1:n.*190C>T | |
| NM_032638.5:c.*190C>T MANE Select | NP_116027.2:n.*190C>T |