Linked Data
ClinVar Variation Id:
1338914
dbSNP Id:
rs1021777878
gnomAD v4:
9-98578039-C-T
COSMIC:
COSM5034873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578039C>T , CM000671.2:g.98578039C>T | GRCh38 |
| NC_000009.11:g.101340321C>T , CM000671.1:g.101340321C>T | GRCh37 |
| NC_000009.10:g.100380142C>T | NCBI36 |
| NG_016426.1:g.136159G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.355G>A MANE Select | ENSP00000259455.2:p.Asp119Asn | |
| ENST00000637410.1:n.133G>A | ||
| ENST00000637717.1:c.-30G>A | ENSP00000490789.1:n.-30G>A | |
| ENST00000259455.3:c.355G>A | ENSP00000259455.2:p.Asp119Asn | |
| ENST00000634227.1:n.129G>A | ||
| NM_005458.7:c.355G>A | NP_005449.5:p.Asp119Asn | |
| NM_005458.8:c.355G>A MANE Select | NP_005449.5:p.Asp119Asn |