Linked Data
dbSNP Id:
rs1341869932
gnomAD v2:
4-69536038-C-T
gnomAD v4:
4-68670320-C-T
COSMIC:
COSM2829270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670320C>T , CM000666.2:g.68670320C>T | GRCh38 |
| NC_000004.11:g.69536038C>T , CM000666.1:g.69536038C>T | GRCh37 |
| NC_000004.10:g.69218633C>T | NCBI36 |
| NG_052676.1:g.5457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.299G>A MANE Select | ENSP00000341045.5:p.Gly100Asp | |
| ENST00000338206.5:c.299G>A | ENSP00000341045.5:p.Gly100Asp | |
| ENST00000616841.4:c.299G>A | ENSP00000482004.1:p.Gly100Asp | |
| NM_001076.3:c.299G>A | NP_001067.2:p.Gly100Asp | |
| NM_001076.4:c.299G>A MANE Select | NP_001067.2:p.Gly100Asp |