Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35176753T>A , CM000682.2:g.35176753T>A | GRCh38 |
| NC_000020.10:g.33764556T>A , CM000682.1:g.33764556T>A | GRCh37 |
| NC_000020.9:g.33228217T>A | NCBI36 |
| NG_032899.1:g.9783T>A | |
| NG_032899.2:g.9783T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216968.5:c.657T>A MANE Select | ENSP00000216968.3:p.Ser219Arg | |
| ENST00000216968.4:c.657T>A | ENSP00000216968.3:p.Ser219Arg | |
| ENST00000634509.1:c.94+307T>A | ENSP00000489456.1:n.94+307T>A | |
| ENST00000635377.1:c.501+307T>A | ||
| NM_006404.4:c.657T>A | NP_006395.2:p.Ser219Arg | |
| XM_011528496.1:c.601+307T>A | XP_011526798.1:n.601+307T>A | |
| NM_001355008.1:c.-101-10882A>T | NP_001341937.1:n.-101-10882A>T | |
| NM_006404.5:c.657T>A MANE Select | NP_006395.2:p.Ser219Arg | |
| NM_001355008.2:c.-101-10882A>T | NP_001341937.1:n.-101-10882A>T |