Linked Data
ClinVar Variation Id:
2586
dbSNP Id:
rs28940575
gnomAD v2:
6-18122762-A-T
gnomAD v3:
6-18122531-A-T
gnomAD v4:
6-18122531-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122531A>T , CM000668.2:g.18122531A>T | GRCh38 |
| NC_000006.11:g.18122762A>T , CM000668.1:g.18122762A>T | GRCh37 |
| NC_000006.10:g.18230741A>T | NCBI36 |
| NG_016750.1:g.5090T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340650.6:c.76T>A MANE Select | ENSP00000345464.3:p.Cys26Ser | |
| ENST00000340650.4:c.76T>A | ENSP00000345464.3:p.Cys26Ser | |
| NM_198586.2:c.76T>A | NP_940988.2:p.Cys26Ser | |
| NM_198586.3:c.76T>A MANE Select | NP_940988.2:p.Cys26Ser |