Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565360G>T , CM000664.2:g.189565360G>T | GRCh38 |
| NC_000002.11:g.190430086G>T , CM000664.1:g.190430086G>T | GRCh37 |
| NC_000002.10:g.190138331G>T | NCBI36 |
| NG_009027.1:g.20452C>A , LRG_837:g.20452C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.754C>A MANE Select | ENSP00000261024.3:p.His252Asn | |
| ENST00000261024.6:c.754C>A | ENSP00000261024.2:p.His252Asn | |
| NM_014585.5:c.754C>A , LRG_837t1:c.754C>A | NP_055400.1:p.His252Asn | |
| XM_005246505.1:c.634C>A | XP_005246562.1:p.His212Asn | |
| XM_005246505.2:c.634C>A | XP_005246562.1:p.His212Asn | |
| XM_017003938.2:c.634C>A | XP_016859427.1:p.His212Asn | |
| NM_014585.6:c.754C>A MANE Select | NP_055400.1:p.His252Asn |