Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.419020G>T , CM000681.2:g.419020G>T | GRCh38 |
| NC_000019.9:g.419020G>T , CM000681.1:g.419020G>T | GRCh37 |
| NC_000019.8:g.370020G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264554.11:c.1657C>A MANE Select | ENSP00000264554.4:p.His553Asn | |
| ENST00000264554.10:c.1657C>A | ENSP00000264554.4:p.His553Asn | |
| ENST00000587423.5:n.860C>A | ||
| ENST00000588376.5:n.720C>A | ||
| ENST00000590170.3:c.596C>A | ||
| NM_012435.2:c.1657C>A | NP_036567.2:p.His553Asn | |
| XM_011527895.1:c.1522C>A | XP_011526197.1:p.His508Asn | |
| XM_011527895.2:c.1522C>A | XP_011526197.1:p.His508Asn | |
| NM_001387056.1:c.1522C>A | NP_001373985.1:p.His508Asn | |
| NM_012435.3:c.1657C>A MANE Select | NP_036567.2:p.His553Asn |