Linked Data
dbSNP Id:
rs2236554
gnomAD v2:
20-4202041-T-A
gnomAD v3:
20-4221394-T-A
gnomAD v4:
20-4221394-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4221394T>A , CM000682.2:g.4221394T>A | GRCh38 |
| NC_000020.10:g.4202041T>A , CM000682.1:g.4202041T>A | GRCh37 |
| NC_000020.9:g.4150041T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379453.6:c.*129A>T MANE Select | ENSP00000368766.4:n.*129A>T | |
| ENST00000379453.5:c.*129A>T | ENSP00000368766.4:n.*129A>T | |
| NM_000678.3:c.*129A>T | NP_000669.1:n.*129A>T | |
| NM_000678.4:c.*129A>T MANE Select | NP_000669.1:n.*129A>T |