Linked Data
ClinVar Variation Id:
2162294
ClinVar RCV Id:
RCV003091206
dbSNP Id:
rs755602075
ExAC:
3:128202811 G / A
gnomAD v2:
3-128202811-G-A
gnomAD v3:
3-128483968-G-A
gnomAD v4:
3-128483968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128483968G>A , CM000665.2:g.128483968G>A | GRCh38 |
| NC_000003.11:g.128202811G>A , CM000665.1:g.128202811G>A | GRCh37 |
| NC_000003.10:g.129685501G>A | NCBI36 |
| NG_029334.1:g.14220C>T , LRG_295:g.14220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.909C>T MANE Plus Clinical | ENSP00000417074.1:p.Thr303= | |
| ENST00000696466.1:c.1191C>T | ENSP00000512647.1:p.Thr397= | |
| ENST00000341105.7:c.909C>T MANE Select | ENSP00000345681.2:p.Thr303= | |
| ENST00000341105.6:c.909C>T | ENSP00000345681.2:p.Thr303= | |
| ENST00000430265.6:c.909C>T | ENSP00000400259.2:p.Thr303= | |
| ENST00000487848.5:c.909C>T | ENSP00000417074.1:p.Thr303= | |
| NM_001145661.1:c.909C>T , LRG_295t1:c.909C>T | NP_001139133.1:p.Thr303= | |
| NM_001145662.1:c.909C>T | NP_001139134.1:p.Thr303= | |
| NM_032638.4:c.909C>T , LRG_295t2:c.909C>T | NP_116027.2:p.Thr303= | |
| NM_001145661.2:c.909C>T MANE Plus Clinical | NP_001139133.1:p.Thr303= | |
| NM_032638.5:c.909C>T MANE Select | NP_116027.2:p.Thr303= |