Linked Data
dbSNP Id:
rs749819993
ExAC:
3:128200669 A / T
gnomAD v2:
3-128200669-A-T
COSMIC:
COSM255198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481826A>T , CM000665.2:g.128481826A>T | GRCh38 |
| NC_000003.11:g.128200669A>T , CM000665.1:g.128200669A>T | GRCh37 |
| NC_000003.10:g.129683359A>T | NCBI36 |
| NG_029334.1:g.16362T>A , LRG_295:g.16362T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1136T>A MANE Plus Clinical | ENSP00000417074.1:p.Leu379Gln | |
| ENST00000696466.1:c.1418T>A | ENSP00000512647.1:p.Leu473Gln | |
| ENST00000696672.1:c.119T>A | ENSP00000512796.1:p.Leu40Gln | |
| ENST00000341105.7:c.1136T>A MANE Select | ENSP00000345681.2:p.Leu379Gln | |
| ENST00000341105.6:c.1136T>A | ENSP00000345681.2:p.Leu379Gln | |
| ENST00000430265.6:c.1094T>A | ENSP00000400259.2:p.Leu365Gln | |
| ENST00000487848.5:c.1136T>A | ENSP00000417074.1:p.Leu379Gln | |
| ENST00000489987.1:n.253T>A | ||
| NM_001145661.1:c.1136T>A , LRG_295t1:c.1136T>A | NP_001139133.1:p.Leu379Gln | |
| NM_001145662.1:c.1094T>A | NP_001139134.1:p.Leu365Gln | |
| NM_032638.4:c.1136T>A , LRG_295t2:c.1136T>A | NP_116027.2:p.Leu379Gln | |
| NM_001145661.2:c.1136T>A MANE Plus Clinical | NP_001139133.1:p.Leu379Gln | |
| NM_032638.5:c.1136T>A MANE Select | NP_116027.2:p.Leu379Gln |