Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436259A>T , CM000678.2:g.67436259A>T | GRCh38 |
| NC_000016.9:g.67470162A>T , CM000678.1:g.67470162A>T | GRCh37 |
| NC_000016.8:g.66027663A>T | NCBI36 |
| NG_011482.1:g.49928T>A | |
| NG_016549.1:g.10127A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.675A>T MANE Select | ENSP00000316786.5:p.Pro225= | |
| ENST00000326152.5:c.675A>T | ENSP00000316786.5:p.Pro225= | |
| ENST00000567684.2:n.538A>T | ||
| NM_000196.3:c.675A>T | NP_000187.3:p.Pro225= | |
| NM_000196.4:c.675A>T MANE Select | NP_000187.3:p.Pro225= |