Linked Data
dbSNP Id:
rs766740489
ExAC:
3:128200015 T / G
gnomAD v2:
3-128200015-T-G
gnomAD v4:
3-128481172-T-G
COSMIC:
COSM3587114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481172T>G , CM000665.2:g.128481172T>G | GRCh38 |
| NC_000003.11:g.128200015T>G , CM000665.1:g.128200015T>G | GRCh37 |
| NC_000003.10:g.129682705T>G | NCBI36 |
| NG_029334.1:g.17016A>C , LRG_295:g.17016A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1290A>C MANE Plus Clinical | ENSP00000417074.1:p.Ala430= | |
| ENST00000696466.1:c.1572A>C | ENSP00000512647.1:p.Ala524= | |
| ENST00000696672.1:c.265A>C | ENSP00000512796.1:p.Ser89Arg | |
| ENST00000341105.7:c.1290A>C MANE Select | ENSP00000345681.2:p.Ala430= | |
| ENST00000341105.6:c.1290A>C | ENSP00000345681.2:p.Ala430= | |
| ENST00000430265.6:c.1248A>C | ENSP00000400259.2:p.Ala416= | |
| ENST00000487848.5:c.1290A>C | ENSP00000417074.1:p.Ala430= | |
| ENST00000489987.1:n.407A>C | ||
| NM_001145661.1:c.1290A>C , LRG_295t1:c.1290A>C | NP_001139133.1:p.Ala430= | |
| NM_001145662.1:c.1248A>C | NP_001139134.1:p.Ala416= | |
| NM_032638.4:c.1290A>C , LRG_295t2:c.1290A>C | NP_116027.2:p.Ala430= | |
| NM_001145661.2:c.1290A>C MANE Plus Clinical | NP_001139133.1:p.Ala430= | |
| NM_032638.5:c.1290A>C MANE Select | NP_116027.2:p.Ala430= |